webdesign naloo

Print page-AA+AContactHome

Mutations of the BEST1 Gene

recent update: 04.03.2014

Mutations and functional domains in bestrophin1
Schematic representation of the amino acid sequence of bestrophin1 according to Genbank NP_004174.1. The transmembrane domains are given as described by Tsunenari et al. Indicated functional domains were described in: pore forming, autoinhibitory domain , acidic regions , Cav1.3 and Cavβ-subunit , Ca2+-activation / binding, Phosphorylation.
This schematic is available here in TIF formate.

Mutation Map

Helix The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the first nucleotide of the starting Methionine codon.

NCBI GenBank: 7439

Phenotype

Codon change

(Nucleotide change)

Sequence Exon Restriction site OMIM Remarks Reference
ARB c.1-?_152+?del(c.0001) 02
Homozygous
link (12)
VMD Thr 2 Ala(c.0004A>G) A>G CC 02
Homozygous
link (26)
VMD Thr 2 Ile(c.0005C>T) A C>T C 02
Homozygous
link (26)
VMD Thr 2 Asn(c.0005C>A) A C>A C 02 Patients: Chinese
link (63)
VMD Ile 3 Thr(c.0008T>C) A T>C C 02
link (10)
VMD Thr 4 Ala(c.0010A>G) A>G CT 02 Patients:
link (49)
VMD Thr 4 Ile(c.0011C>T) A C>T T 02
Homozygous
link (26)
VMD Tyr 5 His(c.0013T>C) T>C AC 02
Homozygous
link (26)
ARB Tyr 5 ter(c.0015C>A) TA C>A 02
Compound
  • S144G
link (30)
VMD Thr 6 Ala(c.0016A>G) A>G CA 02
link (2)
Multifocal Thr 6 Pro(c.0016A>C) A>C CA 02
link (9)
AVMD Thr 6 Pro(c.0016A>C) A>C CA 02 Patients: A21
German
link (29)
VMD Thr 6 Pro(c.0016A>C) A>C CA 02 Patients: Nx 2, Nx6, Nx8, Nx11, A21
Dutch
link (44)
link (4)
link (10)
link (8)
VMD Thr 6 Lys(c.0017C>A) A C>A A 02
Homozygous
link (26)
VMD Thr 6 Arg(c.0017C>G) A C>G A 02
link (32)
link (26)
VMD Val 9 Met(c.0025G>A) G>A TG 02 Patients: O, B20
German
link (41)
link (29)
link (26)
VMD Val 9 Glu(c.0026T>A) G T>A G 02
link (37)
VMD Val 9 Ala(c.0026T>C) G T>C G 02 Fnu4HI Patients: SL3
Swedish
link (44)
link (47)
link (4)
link (49)
link (26)
link (51)
VMD Ala 10 Thr(c.0028G>A) G>A CT 02 Patients: C, B48
Great Britain
link (29)
link (41)
link (26)
VMD Ala 10 Val(c.0029C>T) G C>T T 02 MseI Patients: Nx3
Dutch
link (4)
link (10)
link (8)
link (26)
VMD Asn 11 Ile(c.0032A>T) AT A>T T 02 Patients: German
link (28)
VMD Arg 13 Cys(c.0037C>T) C>T GC 02
Homozygous
link (26)
ARB c.-37G>T(c.-0037g>t) tacca g>t G ACCCA IVS1
Homozygous
link (12)
VMD Arg 13 Pro(c.0038G>C) C G>C C 02
Homozygous
link (26)
VMD Arg 13 His(c.0038G>A) C G>A C 02 Patients: A
link (60)
VMD Gly 15 Asp(c.0044G>A) G G>A C 02 Patients:
link (49)
VMD Ser 16 Phe(c.0047C>T) T C>T C 02 Patients: Mi, Dutch
link (38)
link (8)
link (26)
Multifocal Ser 16 Tyr(c.0047C>A) C>A C 02
link (9)
VMD Phe 17 Ser(c.0050T>C) T T>C C 02
Homozygous
link (26)
VMD Phe 17 Cys(c.0050T>G) T T>G C 02 Patients: Em
link (32)
link (38)
link (26)
VMD Arg 19 Leu(c.0056G>T) C G>T C 02
Homozygous
link (26)
VMD Leu 20 Val(c.0058C>G) C>G TG 02 Patients: Danish VMD20110
link (7)
VMD Leu 21 Val(c.0061C>G) C>G TG 02 Patients: B-29, B-30
Canadian, Great Britain
Cosegregates with S209N
link (29)
VMD Trp 24 Cys(c.0072G>T) TG G>T 02 Patients: G
German
Mexican
4 young asymptomatic Mexican
link (32)
link (41)
link (16)
link (26)
VMD Arg 25 Trp(c.0073C>T) C>T GG 02 Patients: B-47
link (32)
link (57)
link (49)
link (26)
VMD Arg 25 Gln(c.0074G>A) C G>A G 02 Patients: Czech
link (41)
ARB Arg 25 Gln(c.0074G>A) C G>A G 02
Compound:
  • R255G
link (12)
VMD Ser 27 Arg(c.0081C>G) AG C>G 02 Patients: B-43
German
link (29)
VMD Tyr 29 His(c.0085T>C) T>C C 02 Patients: German
link (28)
Retinal Dystrophy (?) Tyr 29 Cys(c.0086A>G) T A>G C 02
Compound: ???
link (20)
Polymorphism Tyr 29 Tyr(c.0087C>T) TA C>T 02
link (60)
ARB Tyr 29 ter(c.0087C>G) TA C>G 02 Compound
  • R141H
  • bypass NMD
link (52)
link (51)
link (23)
VMD Lys 30 Arg(c.0089A>G) A A>G G 02
link (32)
link (26)
link (25)
VMD Lys 30 Asn(c.0090G>C) AA G>C 02
Homozygous
link (26)
ARB Gly 34 Gly(c.0102C>T) GG C>T 02 Patients: GB
Splice error: E35WfsX11
Compound
  • L191P
link (18)
VMD Glu 35 Lys(c.0103G>A) G>A AG 02
link (35)
Polymorphism Leu 37 Leu(c.0109T>C) T>C TA 02 dbSNP: rs1800007 Patients: SL3, Nx3, Ge, Gi, De, Em, Mi, B, C
German, Swedish
link (44)
link (41)
link (39)
Polymorphism -118C>T(c.-0118c>t) ga c>t cc 01
link (1)
VMD Leu 41 Pro(c.0122T>C) C T>C C 02 Patients: German
link (28)
ARB Leu 41 Pro(c.0122T>C) C T>C C 02
Compound
  • R141H
  • P152A
  • I201T

link (14)
link (68)
AVMD Arg 47 His(c.0140G>A) C G>A C 02 Patients: A-27
German
link (29)
ARB Arg 47 Cys(c.0140C>T) C>T GC 02 Patients: BST-I
Homozygous
link (26)
link (56)
VMD Gln 58 Leu(c.0173A>T) C A>T A 03 Patients: B-28
German
link (29)
Polymorphism Thr 55 Thr(c.0175G>A) AC G>A 03
link (32)
ARB c.175_176dup CAA __>AC CAG 03
Homozygous
link (12)
Polymorphism Leu 67 Leu(c.0201G>C) CT G>C 03 dbSNP: rs1801393
link (1)
SNP Cys 69 Trp(c.0207C>G) TG C>G 03 dbSNP: rs62641692 Patients:
Polymorphism Ser 71 Ser(c.0213C>T) AG C>T 03 dbSNP: rs57132800 Patients:
VMD Tyr 72 Asp(c.0214T>G) T>G AC 03
Homozygous
link (26)
VMD Ile 73 Val(c.0217C>A) AT C>A 03 Patients: Nx3
link (44)
VMD Ile 73 Asn(c.0218TT>AC) A TT>AC 03 Patients: Ba
link (38)
link (10)
Polymorphism Ile 73 Ile(c.0219C>A) AT C>A 03 dbSNP: rs1109748 Patients: Ge, Gi, Sc, Ti
link (32)
link (38)
link (1)
link (60)
Polymorphism -221c>t(c.-0221c>t) ct c>t ac 5'UTR Patients: German
link (41)
link (29)
link (1)
Polymorphism Gln 74 Gln(c.0222G>A) G>A A 03
link (1)
VMD Leu 75 Phe(c.0223C>T) C>T TC 03 Patients: Chinese
link (63)
VMD Ile 76 Val(c.0226A>G) A>G TC 03
Homozygous
link (26)
VMD Ile 76 Asn(c.0227T>A) A T>A C 03
Homozygous
link (26)
VMD Phe 80 Leu(c.0240C>A) TT C>A 03
link (32)
link (36)
link (26)
VMD Val 81 Met(c.0241G>A) G>A TG 03
Homozygous
link (26)
VMD Leu 82 Val(c.0244C>G) C>G TG 03 Patients: Dx2
Danish
VMD20108
link (4)
link (11)
link (7)
Polymorphism IVS3-17c>t(c.0248c>t) cc c>t cg IVS3 Patients: German
link (28)
Polymorphism IVS3-12c>t(c.0248-12c>t) cc c>t ct IVS3 Patients: German
link (28)
Polymorphism IVS3-26c>t(c.0248-26c>t) cc c>t ct IVS3 Patients: German
link (28)
Polymorphism IVS3-32c>t(c.0248-32c>t) cc c>t tc IVS3 Patients: German
link (28)
VMD Phe 84 Val(c.0250T>G) T>G TC 04
Homozygous
link (26)
VMD Tyr 85 His(c.0253T>C) T>C AC 04 PmlI dbSNP: rs28940274
Variant 607854.0002
Patients: SL76
Swedish
link (44)
link (47)
link (4)
link (10)
link (26)
link (51)
link (62)
link (7)
VMD Val 86 Met(c.0256A>G) A>G TG 04
Homozygous
link (26)
VCRP Val 86 Met(c.0256G>A) G>A TG 04
link (65)
link (59)
ARB c.263_279del17bp ACG C TG GTC GTG ACC CGC TGG >__ ___ ___ ___ ___ ___ TGG 04
Effect: p.V89Efs*137
Compound
  • A195V

link (22)
VMD Val 89 Ala(c.0266A>G) A A>G C 04 -PshAI Patients: Swedish
late onset
link (21)
link (51)
VMD Thr 91 Ile(c.0272C>T) A C>T C 04
link (32)
link (49)
link (26)
VMD Arg 92 Cys(c.0274C>T) C>T GC 04 Patients: SL5
Swedish
link (4)
link (10)
link (49)
link (26)
VMD Arg 92 Gly(c.0274C>G) C>G GC 04
link (49)
VMD Arg 92 Ser(c.0274C>A) C>A GC 04 Patients: B-15
German
dominant negative
link (29)
link (10)
link (67)
VMD Arg 92 His(c.0275G>A) C G>A C 04 Patients: Ti
VMD200034 Danish
link (38)
link (7)
ARB Trp 93 Pro(c.0277TG>CC) TG>CC G 04
Compound
  • L191P
link (34)
VMD Trp 93 Cys(c.0279G>C) TG G>C 04 +Fnu4HI dbSNP: rs28940273
Variant 607854.0001
Patients: S1, B
Swedish
link (44)
link (4)
link (60)
link (10)
link (26)
VMD Gln 96 Glu(c.0286G>C) G>C AG 04
Homozygous
link (26)
VMD Gln 96 Arg(c.0287A>G) C A>G G 04 Patients: VMD24003
VMD20112
Homozygous
link (26)
link (7)
VMD Gln 96 His(c.0288G>C) CA G>C 04 BsrI Patients: Nx10
Dutch
link (4)
link (8)
VMD Asn 99 Tyr(c.0295A>T) A>T AC 04
Homozygous
link (26)
Polymorphism Asn 99 His(c.0295A>C) A>C AC 04 Patients: Danish VMD24004
link (7)
VMD Asn 99 Lys(c.0297C>A) AA C>A 04 Patients: B-3, B-51
German
link (29)
link (60)
link (10)
link (26)
VMD Leu 100 Arg(c.0299T>G) C T>G G 04 Patients: B-24, B-44
German
link (29)
ARB Pro 101 Thr(c.0301C>A) C>A CG 04 Patients: Italian
Compound
  • E213G
link (56)
VMD Pro 101 Thr(c.0301C>A) C>A CG 04
link (32)
VMD Pro 101 Leu(c.0302C>T) C C>T G 04
Homozygous
link (26)
VMD Trp 102 Arg(c.0304T>C) T>C GG 04 Patients: German
link (28)
Multifocal c.304_309del GAT GAT GAT GAT>___ ___ ___ TTT 08
link (9)
VMD Asp 104 His(c.0310G>C) G>C AC 04 Patients: German
link (28)
VMD Asp 104 Glu(c.0312C>A) GA C>A 04 BsiEI Patients: SL2
link (44)
link (47)
link (4)
link (10)
link (51)
AMD Arg 105 Cys(c.0313C>T) C>T GC 04
link (32)
VMD Phe 113 Leu(c.0339C>G) TT C>G 03 Patients: Chinese
link (31)
Bull's Eye Maculopathy Glu 119 Gln(c.0355G>C) G>C AG 04 Patients: Caucasian
link (1)
link (53)
AMD Glu 119 Gln(c.0355G>C) G>C AG 04 dbSNP: rs1805142
Variant 607854.0008

normal current but altered relative permeability to large anions
link (32)
link (53)
link (1)
link (10)
link (66)
ARB Arg 130 Ser(c.0388C>A) C>A GC 04 Patients: Spanish
Homozygous
link (45)
VMD Asn 133 Lys(c.0399C>G) AA C>G 04
link (32)
link (26)
link (25)
VMD Leu 134 Val(c.0400C>G) C>G TG 04 Patients: Dutch
Compound
  • A195V
link (40)
link (8)
link (9)
VMD Gly 135 Ser(c.0402G>A) G>A GC 04 Patients: SL4
Swedish
link (32)
link (4)
link (26)
RP-like Leu 140 Val(c.0418C>G) C>G TG 04 Patients: Pakistani
Homozygous
diffuse cytoplasmic localization in MDCKII cell line
link (17)
VMD Leu 140 Arg(c.0419T>G) C T>G G 04
link (32)
link (26)
ARB Arg 141 Ser(c.0421C>A) C>A GC 04
Compound
  • R141H
link (24)
VMD Arg 141 Ser(c.0421C>A) C>A GC 04 Patients: B-32
German
Found together with IVS5+1G>C
link (29)
link (26)
VMD Arg 141 His(c.0422G>A) C G>A C 04 Patients: German
Conserved in RFP proteins
link (32)
ARB Arg 141 His(c.0422G>A) C G>A C 04 Patients: BST-D
Conserved in RFP proteins
Homozygous
Compound
  • V317M
  • L41P
  • Y29X
  • P152A
  • A195V
  • R141S
  • P233A
  • D312N

link (14)
link (52)
link (51)
link (10)
link (26)
link (24)
link (34)
link (61)
ARB Ser 144 Gly(c.0430A>G) A>G GC 02
Compound
  • Y5X
link (30)
VMD Ser 144 Gly(c.0430A>G) A>G GC 02
link (30)
VMD Ala 146 Lys(c.0436GC>AA) GC>AA A 04
Homozygous
link (26)
AVMD Ala 146 Lys(c.0436GC>AA) GC>AA A 04 dbSNP: rs1800995
Variant 607854.0001

reduced Cl^-| currents
not dominant negative
altered anion selectivity
link (1)
link (53)
link (67)
link (66)
AMD Lys 149 ter(c.0445A>T) A>T AG 04
link (32)
ARB Pro 152 Ala(c.0455C>G) C C>G C 04 Patients: BST-A III-1
Conserved in RFP proteins
Compound
  • L41P
  • R141H

link (14)
link (26)
Polymorphism IVS4-24c>t(c.0482-24c>t) ac c>t gc IVS4 Patients: SG1, Dx1
link (44)
link (1)
link (29)
ARB c.535_537delAAC CAC AAC>___ ATG 05
Effect: p.N179del
Homozygous
link (26)
link (56)
Retinal Dystrophy (?) Leu 191 Pro(c.0572T>C) C T>C G 02
Compound: ???
link (20)
ARB Leu 191 Pro(c.0572T>C) C T>C G 02
Compound:
  • W287X
  • E35WfsX11
link (18)
link (34)
ARB Ala 195 Val(c.0584C>T) G C>T G 05 Patients: BST-C II-3, II-4
BST-D
Compound
  • c.266_282del
  • R141H
  • c.1470_1471delCA
  • W93P

link (22)
link (26)
link (34)
link (55)
VMD Ala 195 Val(c.0584C>T) G C>T G 05 Patients: Dutch
Compound
  • L134V
link (32)
link (8)
link (26)
VMD c.584insTGG(c.0584>TG GG) AAG G >TG GG CG TGG 05 Patients: Dutch
link (11)
link (8)
Multifocal Ala 195 Val(c.0584C>T) G C>T G 05
Compound
  • L134V
  • single
link (9)
Multifocal c.584insTGG(c.0584>TG GG) AAG G >TG GG CG TGG 05
link (9)
ARB Arg 200 ter(c.0597C>T) C>T GA 05
homozygous
link (14)
ARB Ile 201 Thr(c.0602T>C) A T>C C 05 Patients: BST-F BST-G BST-A III-1
Conserved in RFP proteins
Compound
  • IVS7+4g>a
  • c.847delTTC
  • L41P
link (26)
link (68)
VMD Ile 201 Thr(c.0602T>C) A T>C C 05
Conserved in RFP proteins
link (32)
ARB c.614_625del12bp CCT A TC CTG CTC CAG A>__ ___ ___ ___ _ GC 05 Patients: BST-E
Effect: p.I205_Q208del
Conserved in RFP proteins
Homozygous
link (26)
RP-like Ile 205 Thr(c.0614T>C) A T>C C 05 Patients: European
localized WT-like to the basolateral membrane in MDCKII cells
link (17)
Polymorphism Leu 206 Leu(c.0618G>N) CT G>N 05 dbSNP: rs62641693
link (32)
VMD Leu 207 Ile(c.0619C>A) C>A TC 05
link (32)
Polymorphism Gln 208 Gln(c.0624G>A) CA G>A 05 Patients: German
link (28)
VMD Ser 209 Asn(c.0627G>A) A G>A C 05 Patients: B-30, B-29
Canadian, Great Britain
Cosegregates with L21V
link (29)
VMD IVS5+1g>c(c.0636+1g>c) AC g>c tg IVS5 Patients: B-32
German
Found together with R141S
link (29)
VMD Glu 213 Lys(c.0637G>A) G>A AG 06
Homozygous
link (26)
Polymorphism IVS5-6c>t(c.0637-6c>t) CC c>t CC IVS5
link (32)
VMD Glu 213 Gly(c.0638T>A) G T>A G 06
link (37)
ARB Glu 213 Gly(c.0638A>G) G A>G G 06 Patients: Italian
Compound
  • P101T
link (56)
Drusen, multifocal Thr 216 Ile(c.0647C>T) A C>T C 06
does not produce defect in channel function
link (53)
link (66)
AMD Thr 216 Ile(c.0647C>T) A C>T C 06
link (1)
link (10)
Retinal Dystrophy (?) Leu 217 Phe(c.0651G>T) TT G>T 06
Compound: ???
link (20)
VMD Arg 218 Cys(c.0652C>T) C>T GT 06 Patients: Dx1, Sc, C, D
Dutch, German
Thai
Italian
eliminates channel function but expresses normal
  • reduced penetrance and variable expressivity
link (41)
link (38)
link (60)
link (4)
link (3)
link (57)
link (26)
VMD Arg 218 Ser(c.0652C>A) C>A GT 06 Patients: SU5, B-13, B-53
Swedish, German
link (4)
link (29)
link (10)
VMD Arg 218 Cys(c.0652C>T) C>T GT 06 Patients: VMD20101
link (60)
link (10)
link (5)
link (50)
link (7)
VMD Arg 218 Gly(c.0652C>G) C>G GT 06
link (57)
VMD Arg 218 His(c.0653G>A) C G>A T 06 Patients: Ge, Tu, Dutch
Conserved in RFP proteins
link (32)
link (38)
link (8)
link (26)
link (27)
link (25)
Polymorphism Arg 218 Arg(c.0654C>T) C>T GT 06 Patients: Dx1
link (44)
VMD Gln 220 Pro(c.0659A>C) C A>C G 06
Homozygous
link (26)
VMD Cys 221 Phe(c.0662G>T) T G>T T 06 link (26)
VMD Cys 221 Trp(c.0663T>G) TG T>G 06
spontaneous
link (43)
VMD Gly 222 Val(c.0665G>T) G G>T A 06
dominant negative
smaller effect on Ca\v| activation
link (32)
VMD Leu 224 Met(c.0670C>A) C>A TG 06 Patients: B-22, B-26
German
link (29)
VMD Leu 224 Pro(c.0671T>C) C T>C G 06
link (32)
link (26)
VMD Tyr 227 Asn(c.0679T>A) T>A AC 06 +PflMI dbSNP: rs28941469
Variant 607854.0004
Patients: Nx1, Nx12, D
Canadian, Dutch
link (44)
link (4)
link (10)
link (8)
link (26)
link (25)
VMD, multifocal Tyr 227 Asn(c.0679T>A) T>A AC 06 +PflMI dbSNP: rs28941469
Variant 607854.0004
Patients: Nx1, Nx12, D
Canadian, Dutch
link (42)
VMD Tyr 227 Phe(c.0680A>T) T A>T C 06
link (60)
RP-like Tyr 227 Cys(c.0680A>G) T A>G C 06 Patients: European
link (17)
VMD Tyr 227 Cys(c.0680A>G) T A>G C 06 Patients: H
German
link (41)
link (32)
link (60)
link (26)
RP-like Asp 228 Asn(c.0682G>A) G>A AC 06 Patients: European
diffuse cytoplasmic localization in MDCKII cell line
link (17)
VMD Ile 230 Asn(c.0689T>A) A T>A T 06
Homozygous
link (26)
VMD Ile 230 Thr(c.0689T>C) A T>C T 06 Patients:
link (49)
VMD Ser 231 Arg(c.0692T>G) AG T>G 06 Patients: B-8
German
link (29)
VMD Ile 232 Asn(c.0695T>A) A T>A C 06 Patients: German
link (60)
Polymorphism Ile 232 Ile(c.0696C>A) AT C>A 06 dbSNP: rs1805140
link (32)
link (1)
ARB Pro 233 Ala(c.0698C>G) C C>G A 06

Compound
  • R141H

link (61)
VMD Pro 233 Leu(c.0698C>T) C C>T A 06
Homozygous
link (26)
VMD Leu 234 Val(c.0699C>G) C>G TG 06
link (36)
VMD Val 235 Met(c.0703G>A) G>A TG 06 Patients: T
Hungarian
link (41)
VMD Val 235 Leu(c.0703G>C) G>C TG 06 Patients: Sch
link (38)
VCRP Val 235 Ala(c.0704T>C) G T>C G 06
link (13)
VCRP Tyr 236 Cys(c.0707A>G) T A>G T 06
link (65)
VMD Thr 237 Ser(c.0709A>T) A>T CA 06 Patients: German
link (60)
VMD Thr 237 Arg(c.0710C>G) A C>G A 06 Patients: B-52
German
link (29)
link (60)
ARB c.713_714+13del ACA C AG GTGAGGACTAGGCC_ TG GTG 06 BfaI-,MwoI- dbSNP: rs
Compound
  • A195V
  • A357V (in cis)

link (22)
link (26)
link (34)
link (55)
VMD IVS6+1G>A(c.0714+1g>a) CAG g>a tgag IVS6
Homozygous
link (26)
VCRP Val 239 Met(c.0715G>A) G>A GT 06
link (65)
Polymorphism IVS6-12del(TCC)3 aca tc ctcct cc >__ _____ __ tcc tcctc ctcct cccag IVS6
link (41)
link (29)
link (39)
Polymorphism IVS6-9del(TCC)2 aca tc ctcc>__ ____ t cctcc tcctc ctcct cccag IVS6
link (1)
Polymorphism IVS6-27insTCC(c.0715-21>cct) acatc ctcct cctcc tcctc ctcct >cct cc cag IVS6
link (1)
Polymorphism Val 240 Val(c.0720G>C) GT G>C 07 Patients: German
link (28)
VMD Thr 241 Asn(c.0722C>A) A C>A T 07
Homozygous
Heterozygous
link (28)
link (26)
link (25)
VMD Val 242 Met(c.0724G>A) G>A TG 07 Patients: Thai
late onset
reduced penetrance
link (3)
VMD Ala 243 Val(c.0728C>T) G C>T G 07 dbSNP: rs28940570 Patients: B-12, B-27, B-41
German
VMD200022
late onset
link (29)
link (10)
link (49)
link (26)
link (46)
link (7)
AVMD Ala 243 Val(c.0728C>T) G C>T G 07 dbSNP: rs28940570 Patients: B-10, A-13, A-18, A-36, A-37
German
link (29)
link (10)
VMD Ala 243 Thr(c.0728G>A) G>A CG 07
link (32)
link (10)
link (11)
link (26)
ARB c.762delG GTT GG G>_ CGG 07
Compound:
  • R25G
link (12)
VMD Arg 255 Trp(c.0763>T) C >T GG 07 Patients: Chinese
link (63)
VMD c.779delC AAC C C>_ A 07 Patients: German
Reported as P260fsX288
link (28)
ARB c.779delC AAC C C>_ A 07 Patients: German
Effect: p.P260Qfs*29 Compound:
  • c.1120dupG
  • L294F

link (48)
ARB Pro 274 Arg(c.0821C>G) C C>G C 07 Patients: BST-B II-1
Conserved in RFP proteins
Compound
  • IVS7-2a>g
link (26)
AMD Val 275 Ile(c.0823G>A) G>A TC 07
link (32)
ARB Trp 287 ter(c.0824C>T) G C>T G 07
Compound
  • L191P
link (34)
VMD Phe 276 Leu(c.0828C>G) TT C>G 07
link (32)
link (26)
ARB c.847_849delTTC CAG TTC>___ TTC TTC TAT 07 Patients: BST-G
Conserved in RFP proteins
Compound
  • I201T
link (26)
VMD c.847delTTC CAG TTC>___ TTC TTC TAT 07 Patients: German
Conserved in RFP proteins
link (32)
VMD Tyr 284 Cys(c.0851A>G) T A>G T 07
Homozygous
link (26)
Retinal Dystrophy (?) Trp 287 ter(c.0860G>A) T G>A G 07
Compound: ???
link (20)
ARB IVS7+4g>a(c.0867+4a>g) ca a>g g G IVS7 Patients: BST-F
Conserved in RFP proteins
Compound
  • I201T
link (26)
ARB IVS7-2a>g(c.0868-2a>g) ca a>g g G IVS7 Patients: BST-B II-1
Conserved in RFP proteins
Compound
  • P274R
link (26)
VMD Glu 292 Lys(c.0874G>A) G>A AG 08 Patients:
Splice Error
link (13)
link (58)
link (26)
VMD Gln 293 Lys(c.0877C>A) C>A AG 04 Fnu4HI Patients: Nx4
Dutch
Mexican
4 young asymptomatic Mexican
link (4)
link (8)
link (16)
VMD Leu 294 Val(c.0880C>G) C>G TC 07 Patients: German
link (28)
ARB Leu 294 Phe(c.0880C>T) C>T TC 08 Patients: German
Compound:
  • c.779delC

link (48)
VMD Ile 295 Val(c.0883A>G) A>G TC 08
Homozygous
link (26)
VMD Ile 295 Thr(c.0884T>C) A T>C T 08 Patients: Japan
Reported as 990T>C
link (64)
VMD c.884delTCA CAG CTC A TC A>__ _ AC 08 Patients: W, N, B-4, B-19, B-21, B-23, B-35
German
Reported as I295del
does not generate functional Cl^-| currents
inhibits BEST1 function
link (41)
link (29)
link (60)
link (10)
link (66)
link (26)
link (25)
Retinal Dystrophy (?) Asn 296 Asp(c.0886A>G) A>G AC 08
Compound: ???
link (20)
VMD Asn 296 His(c.0886A>C) A>C AC 08
link (32)
link (26)
VMD Asn 296 Ser(c.0887A>G) A A>G C 08 Patients: Ah
VMD20107
link (38)
link (26)
link (7)
VMD Pro 297 Ala(c.0889C>G) C>G CC 08 Patients: Di
link (41)
link (32)
link (26)
VMD Pro 297 Ser(c.0889C>T) C>T CC 08 dbSNP: rs1805143
link (1)
link (54)
link (26)
Multifocal Asn 296 Lys(c.0891C>A) AA C>A 08
link (9)
Multifocal Phe 298 Ser(c.0893T>C) T T>C T 08
link (9)
VMD Phe 298 Ser(c.0893T>C) T T>C T 08 Patients: German
link (28)
VMD Gly 299 Glu(c.0896G>A) G G>A A 08 MboI dbSNP: rs28941468
Variant 607854.0003
Patients: SG1
Swedish
dominant negative
link (44)
link (4)
link (10)
link (67)
VMD Gly 299 Ala(c.0896G>C) G G>C A 08 Patients: Dutch
link (11)
link (8)
VMD Glu 300 Lys(c.0898G>A) G>A AG 08 Patients: B-25
German
link (32)
link (26)
link (25)
VMD Glu 300 Asp(c.0900G>C) GA G>C 08 dbSNP: rs1805144 Patients: E, F
link (32)
link (1)
link (60)
link (54)
link (10)
link (26)
VMD c.901_903delGAT GAG GAT>___ GAT 08
Homozygous
link (26)
VMD Asp 301 Asn(c.0901G>A) G>A AT 08 Patients: B-6
link (29)
VMD Asp 301 Gly(c.0902ATC>GT) G ATC>GT 08 Patients: Chinese
link (63)
VMD Asp 301 Glu(c.0903T>G) GA T>G 08 Patients: G, B-1, B-16
link (60)
link (10)
link (26)
VMD Asp 302 His(c.0904G>C) G>C AT 08 Patients: C
link (39)
VMD Asp 302 Asn(c.0904G>T) G>T AT 08 Patients: Danish VMD20102
VMD20105
VMD20106
VMD200035
link (7)
VMD c.904_912del GAT GAT GAT GAT>___ ___ ___ TTT 08 Patients: Dutch
link (11)
link (8)
link (26)
VMD Asp 302 Gly(c.0905A>G) G A>G T 08
link (32)
link (26)
VMD Asp 302 Ala(c.0905A>C) G A>C T 08 Patients: Dutch
Danish VMD20109
link (8)
link (26)
link (25)
link (7)
VMD Asp 302 Val(c.0905A>T) G A>T T 08
link (32)
link (26)
VMD Asp 303 Gly(c.0908A>G) G A>G T 08
Homozygous
link (26)
VMD Asp 303 Glu(c.0909T>A) GA T>A 08 Patients: A
link (39)
VMD Asp 304 Asn(c.0910G>A) G>A AT 08
Homozygous
link (26)
VMD c.910delGAT GAG GAT GAT GAT GAT>___ TTT 08
Conserved in RFP proteins
link (32)
VMD Asp 304 Val(c.0911A>T) G A>T T 08
link (36)
VMD Phe 305 Ser(c.0914T>C) T T>C T 08 Patients: F
Great Britain
link (41)
link (33)
link (26)
link (33)
VMD Phe 305 Tyr(c.0914T>A) T T>A T 08
Homozygous
link (26)
VMD Glu 306 Gly(c.0917A>G) G A>G G 08
Conserved in RFP proteins
link (32)
link (26)
VMD Glu 306 Asp(c.0918G>C) GA G>C 08
Conserved in RFP proteins
link (32)
link (26)
ARB Thr 307 Ala(c.0919G>A) G>A CC 08
Homozygous
link (26)
VMD Thr 307 Ala(c.0919A>G) A>G CC 08
link (32)
VMD Thr 307 Ile(c.0920C>T) A C>T C 08 Patients: H
link (32)
link (60)
link (10)
link (26)
link (25)
VMD Asn 308 Ser(c.0923A>G) A A>G C 08 Patients: B
link (39)
VMD Trp 309 Arg(c.0925T>C) T>C GG 08
Homozygous
link (26)
VMD Ile 310 Thr(c.0929T>C) A T>C T 08 Patients: B-6
German
link (29)
link (26)
VMD Val 311 Gly(c.0932TG>GC) G TG>GC 08 Patients: B-5, B-7
German
link (29)
Polymorphism Val 311 Val(c.0933C>T) GT C>T 08
link (29)
AVMD Asp 312 Asn(c.0934G>A) G>A AC 08 Patients: A-3
German
spotty cytoplasmic localization in MDCKII cell line
link (29)
ARB Asp 312 Asn(c.0934G>A) G>A AC 08
Compound
  • M325T
      dominant negative
      does not generate functional Cl^-| currents
      inhibits BEST1 function
link (14)
link (10)
link (67)
link (66)
link (12)
ARB Asp 312 Glu(c.0935A>C) G A>C C 08 Patients: Danish
Homozygous
link (45)
VMD Asp 312 Gly(c.0936C>G) GA C>G 08 Patients: Danish
link (51)
VMD Asp 312 Glu(c.0936A>C) G A>C C 08 Patients: Danish VMD20102
VMD20105
VMD20106
VMD200035
link (7)
VMD Gln 316 Pro(c.0947A>C) C A>C G 08
Homozygous
link (26)
link (25)
VMD Gln 316 His(c.0948G>T) CA G>T 08
Homozygous
link (26)
ARB Val 317 Met(c.0949G>A) G>A TG 08
Conserved in RFP proteins
Compound
  • R141H

link (14)
Polymorphism IVS8-21del t ct cttct>ct_ct IVS8
link (32)
ARB Met 325 Thr(c.0974T>C) A T>C G 08
Compound
  • D312N

link (14)
Polymorphism Pro 341 Pro(c.1023C>T) CC C>T 09 dbSNP: rs1801390 Patients: SL76
German
link (44)
link (1)
link (29)
Polymorphism Glu 342 Glu(c.1026G>A) GA G>A 09
link (1)
SNP Ala 357 Val(c.1070C>T) G C>T C 09 dbSNP: rs17854138 Patients:
SNP Ala 357 Val(c.1070C>T) G C>T C 10 dbSNP: rs17854138
link (55)
ARB c.1098del10bp AT C AG gtgtg gc cag 09 Patients: BST-H
Homozygous
link (26)
ARB c.1120dupG ATG >G GAG 10
Effect: E374Gfs*27
Homozygous
  • c.779delC

link (26)
link (48)
Polymorphism Thr 470 Thr(c.1410A>G) AC A>G 10 dbSNP: rs149698 Patients: Nx3, SL1, S1, SL76, Sch, Em, Ge, A, B, C
German, Swedish
link (44)
link (41)
link (29)
link (1)
link (38)
link (60)
link (39)
VMD c.1415delC C T>_ C 10
  • late onset form in paternal grandmother
  • early onset in homozygous patients
link (6)
EOSRD Arg 482 Trp(c.1444) GG 14 dbSNP: rs
link (19)
ARB c.1470_1471delCA CTT CA>__ C AGT 10 Patients: GB
BST-C II-3, II-4
Effect: H490Qfs*24
Compound
  • A195V
link (18)
link (26)
VMD c.1470_1471delCA CTT CA>__ C AGT 10 Patients: I
link (15)
link (26)
VMD Val 492 Ile(c.1474G>A) G>A TC 10
Homozygous
link (26)
EOSRD c.1511_1524del11bp GTG C TG CAG TTC GGC>__ ___ ___ ___ CGC 14 dbSNP: rs
Effect: p.L504Rfs*140
link (19)
SNP Lys 510 Lys(c.1530G>A) AA G>A 10 dbSNP: rs17854139
Polymorphism Ser 519 Ser(c.1557C>T) AG C>T 10 dbSNP: rs1800008 Patients: S1, SL2, SL3, SL76
German, Swedish
link (44)
link (41)
link (1)
SNP Asp 520 Asn(c.1558G>A) G>A AT 10 dbSNP: rs1800008
Polymorphism Glu 525 Ala(c.1574A>C) G A>C G 10
link (1)
Polymorphism Thr 536 Thr(c.1608T>C) AC T>C 10 dbSNP: rs1800009 Patients: Dx1, SL1, SL2, SL3, SL76, Sch, Ge
German, Swedish
link (44)
link (41)
link (1)
link (38)
link (60)
Polymorphism Glu 557 Lys(c.1669G>A) G>A AA 10
Homozygous control
link (1)
link (26)
ARB c.1669delC ACA C>_ TC 10 Patients: Italian
Compound
  • D312N
link (56)
Polymorphism Thr 561 Ala(c.1681G>A) G>A AA 10
link (1)
Drusen, multifocal Leu 567 Phe(c.1699C>T) C>T TC 10

normal Arden ratio
link (53)
AMD Leu 567 Phe(c.1699C>T) C>T TC 10
does not produce defect in channel function
link (1)
link (53)
link (10)
link (66)
Polymorphism Glu 578 Val(c.1733A>T) G A>T A 10 dbSNP: rs1800010
link (41)
Polymorphism IVS10-27t>c ta t>c IVS10 dbSNP: rs62640569
link (1)
Polymorphism c.1847ins g ctg >g tc 3'UTR
link (1)
Polymorphism c.1891t>c gg t>c ta 3'UTR
link (1)

References

  1. Allikmets,R., Seddon,J.M., Bernstein,P.S., Hutchinson,A., Atkinson,A., Sharma,S., Gerrard,B., Li,W., Metzker,M.L., Wadelius,C., Caskey,C.T., Dean,M., and Petrukhin,K. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 1999; Hum.Genet. 104: 449-453.
    Goto Top
  2. Apushkin,M.A., Fishman,G.A., Taylor,C.M., and Stone,E.M. Novel de novo mutation in a patient with Best macular dystrophy. 2006; Arch.Ophthalmol. 124: 887-889.
    Goto Top
  3. Atchaneeyasakul,L.O., Jinda,W., Sakolsatayadorn,N., Trinavarat,A., Ruangvoravate,N., Thanasombatskul,N., Thongnoppakhun,W., and Limwongse,C. Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 2008; Ophthalmic Genet. 29: 139-144.
    Goto Top
  4. Bakall,B., Marknell,T., Ingvast,S., Koisti,M.J., Sandgren,O., Li,W., Bergen,A.A., Andreasson,S., Rosenberg,T., Petrukhin,K., and Wadelius,C. The mutation spectrum of the bestrophin protein--functional implications. 1999; Hum.Genet. 104: 383-389.
    Goto Top
  5. Barro-Soria,R., Aldehni,F., Almaca,J., Witzgall,R., Schreiber,R., and Kunzelmann,K. ER-localized bestrophin 1 activates Ca2+-dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel. 2010; Pflugers Arch. 459: 485-497.
    Goto Top
  6. Bitner,H., Mizrahi-Meissonnier,L., Griefner,G., Erdinest,I., Sharon,D., and Banin,E. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 2011; Invest Ophthalmol Vis.Sci. 52: 5332-5338.
    Goto Top
  7. Bitner,H., Schatz,P., Mizrahi-Meissonnier,L., Sharon,D., and Rosenberg,T. Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark. 2012; Am.J.Ophthalmol. 154: 403-412.
    Goto Top
  8. Booij,J.C., Boon,C.J., van Schooneveld,M.J., Brink,J.B., Bakker,A., Jong,P.T., Hoyng,C.B., Bergen,A.A., and Klaver,C.C. Course of Visual Decline in Relation to the Best1 Genotype in Vitelliform Macular Dystrophy. 2010; Ophthalmology. 120: 809-820.
    Goto Top
  9. Boon,C.J., Klevering,B.J., den Hollander,A.I., Zonneveld,M.N., Theelen,T., Cremers,F.P., and Hoyng,C.B. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. 2007; Arch.Ophthalmol. 125: 1100-1106.
    Goto Top
  10. Boon,C.J., Klevering,B.J., Leroy,B.P., Hoyng,C.B., Keunen,J.E., and den Hollander,A.I. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 2009; Prog.Retin.Eye Res. 28: 187-205.
    Goto Top
  11. Boon,C.J., Theelen,T., Hoefsloot,E.H., van Schooneveld,M.J., Keunen,J.E., Cremers,F.P., Klevering,B.J., and Hoyng,C.B. Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 2009; Retina. 29: 835-847.
    Goto Top
  12. Boon,C.J., van den Born,L.I., Visser,L., Keunen,J.E., Bergen,A.A., Booij,J.C., Riemslag,F.C., Florijn,R.J., and van Schooneveld,M.J. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. 2013; Ophthalmology. 120: 809-820.
    Goto Top
  13. Burgess,R., MacLaren,R.E., Davidson,A.E., Urquhart,J.E., Holder,G.E., Robson,A.G., Moore,A.T., Keefe,R.O., Black,G.C., and Manson,F.D. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. 2009; J.Med.Genet. 46: 620-625.
    Goto Top
  14. Burgess,R., Millar,I.D., Leroy,B.P., Urquhart,J.E., Fearon,I.M., De,B.E., Brown,P.D., Robson,A.G., Wright,G.A., Kestelyn,P., Holder,G.E., Webster,A.R., Manson,F.D., and Black,G.C. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 2008; Am.J.Hum.Genet. 82: 19-31.
    Goto Top
  15. Caldwell,G.M., Kakuk,L.E., Griesinger,I.B., Simpson,S.A., Nowak,N.J., Small,K.W., Maumenee,I.H., Rosenfeld,P.J., Sieving,P.A., Shows,T.B., and Ayyagari,R. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 1999; Genomics. 58: 98-101.
    Goto Top
  16. Chacon-Camacho,O.F., Camarillo-Blancarte,L., and Zenteno,J.C. OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations. 2011; Ophthalmic Genet. 32: 24-30.
    Goto Top
  17. Davidson,A.E., Millar,I.D., Urquhart,J.E., Burgess-Mullan,R., Shweikh,Y., Parry,N., O'Sullivan,J., Maher,G.J., McKibbin,M., Downes,S.M., Lotery,A.J., Jacobson,S.G., Brown,P.D., Black,G.C., and Manson,F.D. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 2009; Am.J.Hum.Genet. 85: 581-592.
    Goto Top
  18. Davidson,A.E., Sergouniotis,P.I., Burgess-Mullan,R., Hart-Holden,N., Low,S., Foster,P.J., Manson,F.D., Black,G.C., and Webster,A.R. A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. 2010; Mol.Vis. 16: 2916-2922.
    Goto Top
  19. den Hollander,A.I., van Lith-Verhoeven,J.J., Arends,M.L., Strom,T.M., Cremers,F.P., and Hoyng,C.B. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 2007; Arch Ophthalmol. 125: 932-935.
    Goto Top
  20. Downs,K., Zacks,D.N., Caruso,R., Karoukis,A.J., Branham,K., Yashar,B.M., Haimann,M.H., Trzupek,K., Meltzer,M., Blain,D., Richards,J.E., Weleber,R.G., Heckenlively,J.R., Sieving,P.A., and Ayyagari,R. Molecular testing for hereditary retinal disease as part of clinical care. 2007; Arch Ophthalmol. 125: 252-258.
    Goto Top
  21. Eksandh,L., Bakall,B., Bauer,B., Wadelius,C., and Andreasson,S. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 2001; Ophthalm.Genet. 22: 107-115.
    Goto Top
  22. Gerth,C., Zawadzki,R.J., Werner,J.S., and Heon,E. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). 2009; Doc.Ophthalmol. 3: 239-246.
    Goto Top
  23. Guziewicz,K.E., Slavik,J., Lindauer,S.J., Aguirre,G.D., and Zangerl,B. Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. 2011; Invest Ophthalmol Vis.Sci. 52: 4497-4505.
    Goto Top
  24. Iannaccone,A., Kerr,N.C., Kinnick,T.R., Calzada,J.I., and Stone,E.M. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. 2011; Arch Ophthalmol. 129: 211-217.
    Goto Top
  25. Kay,C.N., Abramoff,M.D., Mullins,R.F., Kinnick,T.R., Lee,K., Eyestone,M.E., Chung,M.M., Sohn,E.H., and Stone,E.M. Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. 2012; Arch Ophthalmol. 130: 357-364.
    Goto Top
  26. Kinnick,T.R., Mullins,R.F., Dev,S., Leys,M., Mackey,D.A., Kay,C.N., Lam,B.L., Fishman,G.A., Traboulsi,E., Iezzi,R., and Stone,E.M. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. 2011; Retina. 31: 581-595.
    Goto Top
  27. Kousal,B., Chakarova,F., Black,G.C., Ramsden,S., Langrova,H., and Liskova,P. [Minimal ocular findings in a patient with best disease caused by the c.653G>A mutation in BEST1]. 2011; Cesk.Slov.Oftalmol. 67: 170-174.
    Goto Top
  28. Krämer,F., Mohr,N., Kellner,U., Rudolph,G., and Weber,B.H. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 2003; Hum.Mutat. 22: 418
    Goto Top
  29. Krämer,F., White,K., Pauleikhoff,D., Gehrig,A., Passmore,L., Rivera,A., Rudolph,G., Kellner,U., Andrassi,M., Lorenz,B., Rohrschneider,K., Blankenagel,A., Jurklies,B., Schilling,H., Schutt,F., Holz,F.G., and Weber,B.H. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 2000; Eur.J.Hum.Genet. 8: 286-292.
    Goto Top
  30. Lacassagne,E., Dhuez,A., Rigaudiere,F., Dansault,A., Vetu,C., Bigot,K., Vieira,V., Puech,B., foort-Dhellemmes,S., and Abitbol,M. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. 2011; Mol.Vis. 17:309-22.: 309-322.
    Goto Top
  31. Li,Y., Wang,G.L., and Dong,B. Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 2004; Hum.Genet. 114: 608
    Goto Top
  32. Lotery,A.J., Munier,F.L., Fishman,G.A., Weleber,R.G., Jacobson,S.G., Affatigato,L.M., Nichols,B.E., Schorderet,D.F., Sheffield,V.C., and Stone,E.M. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 2000; Invest.Ophthalmol.Vis.Sci. 41: 1291-1296.
    Goto Top
  33. Low,S., Davidson,A.E., Holder,G.E., Hogg,C.R., Bhattacharya,S.S., Black,G.C., Foster,P.J., and Webster,A.R. Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. 2011; Mol.Vis. 17: 2272-2282.
    Goto Top
  34. MacDonald,I.M., Gudiseva,H.V., Villanueva,A., Greve,M., Caruso,R., and Ayyagari,R. Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy. 2012; Ophthalmic Genet. 33: 123-129.
    Goto Top
  35. Maia-Lopes,S., Castelo-Branco,M., Silva,E., Aguirre,J., Riveiro-Alvarez,R., Trujillo-Tiebas,M.J., and Ayuso,C. Gene symbol: BEST1. Disease: Best macular dystrophy. 2008; Hum.Genet. 123: 112
    Goto Top
  36. Maia-Lopes,S., Castelo-Branco,M., Silva,E., Villaverde,C., Aguirre,J., Trujillo-Tiebas,M.J., and Ayuso,C. Gene symbol: BEST1. Disease: Best macular dystrophy. 2008; Hum.Genet. 123: 110
    Goto Top
  37. Maia-Lopes,S., Castelo-Branco,M., Silva,E., Villaverde,C., Aguirre,J., Trujillo-Tiebas,M.J., and Ayuso,C. Gene symbol: BEST1. Disease: Best macular dystrophy. 2008; Hum.Genet. 123: 111
    Goto Top
  38. Marchant,D., Gogat,K., Boutboul,S., Pequignot,M., Sternberg,C., Dureau,P., Roche,O., Uteza,Y., Hache,J.C., Puech,B., Puech,V., Dumur,V., Mouillon,M., Munier,F.L., Schorderet,D.F., Marsac,C., Dufier,J.L., and Abitbol,M. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 2001; Hum.Mutat. 17: 235
    Goto Top
  39. Marchant,D., Gogat,K., Dureau,P., Sainton,K., Sternberg,C., Gadin,S., Dollfus,H., Brasseur,G., Hache,J.C., Dumur,V., Puech,V., Munier,F., Schorderet,D.F., Marsac,C., Menasche,M., Dufier,J.L., and Abitbol,M. Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 2002; Ophthalmic Genet. 23: 167-174.
    Goto Top
  40. Marchant,D., Yu,K., Bigot,K., Roche,O., Germain,A., Bonneau,D., Drouin-Garraud,V., Schorderet,D.F., Munier,F., Schmidt,D., Le,N.P., Marsac,C., Menasche,M., Dufier,J.L., Fischmeister,R., Hartzell,C., and Abitbol,M. New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. 2007; J.Med.Genet. 44: e70
    Goto Top
  41. Marquardt,A., Stöhr,H., Passmore,L.A., Kramer,F., Rivera,A., and Weber,B.H. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 1998; Hum Mol.Genet. 7: 1517-1525.
    Goto Top
  42. Mullins,R.F., Oh,K.T., Heffron,E., Hageman,G.S., and Stone,E.M. Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. 2005; Arch Ophthalmol. 123: 1588-1594.
    Goto Top
  43. Palomba,G., Rozzo,C., Angius,A., Pierrottet,C.O., Orzalesi,N., and Pirastu,M. A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 2000; Am.J.Ophthalmol. 129: 260-262.
    Goto Top
  44. Petrukhin,K., Koisti,M.J., Bakall,B., Li,W., Xie,G., Marknell,T., Sandgren,O., Forsman,K., Holmgren,G., Andreasson,S., Vujic,M., Bergen,A.A., McGarty Dugan,V., Figueroa,D., Austin,C.P., Metzker,M.L., Caskey,C.T., and Wadelius,C. Identification of the gene responsible for Best macular dystrophy. 1998; Nat.Genet. 19: 241-247.
    Goto Top
  45. Pineiro-Gallego,T., Alvarez,M., Pereiro,I., Campos,S., Sharon,D., Schatz,P., and Valverde,D. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1. 2011; Mol.Vis. 17: 1607-1617.
    Goto Top
  46. Pollack,K., Kreuz,F.R., and Pillunat,L.E. Morbus Best mit normalem EOG - Fallvorstellung einer familiären Makuladystrophie. 2005; Ophthalmologe. 102: 891-894.
    Goto Top
  47. Ponjavic,V., Eksandh,L., Andreasson,S., Sjostrom,K., Bakall,C., Ingvast,S., Wadelius,C., and Ehinger,B. Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. 1999; Ophthalm.Genet. 20: 251-257.
    Goto Top
  48. Preising,M.N., Pasquay,C., Friedburg,C., Bowl,W., Jager,M., Andrassi-Darida,M., and Lorenz,B. [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood] Autosomal-rezessive Bestrophinopathie (ARB): klinische und molekulare Beschreibung zweier Patienten im Kindesalter. DEP - 20121024. 2012; Klin.Monbl.Augenheilkd. 229: 1009-1017.
    Goto Top
  49. Querques,G., Zerbib,J., Santacroce,R., Margaglione,M., Delphin,N., Rozet,J.M., Kaplan,J., Martinelli,D., Delle,N.N., Soubrane,G., and Souied,E.H. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 2009; Mol.Vis. 15:2960-72.: 2960-2972.
    Goto Top
  50. Rosenthal,R., Bakall,B., Kinnick,T., Peachey,N., Wimmers,S., Wadelius,C., Marmorstein,A., and Strauss,O. Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. 2006; FASEB J. 20: 178-180.
    Goto Top
  51. Schatz,P., Bitner,H., Sander,B., Holfort,S., Andreasson,S., Larsen,M., and Sharon,D. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. 2010; Invest Ophthalmol Vis.Sci. 51: 4754-4765.
    Goto Top
  52. Schatz,P., Klar,J., Andreasson,S., Ponjavic,V., and Dahl,N. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 2006; Ophthalmic Genet. 27: 51-56.
    Goto Top
  53. Seddon,J.M., Afshari,M.A., Sharma,S., Bernstein,P.S., Chong,S., Hutchinson,A., Petrukhin,K., and Allikmets,R. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. 2001; Ophthalmology. 108: 2060-2067.
    Goto Top
  54. Seddon,J.M., Sharma,S., Chong,S., Hutchinson,A., Allikmets,R., and Adelman,R.A. Phenotype and genotype correlations in two Best families. 2003; Ophthalmology. 110: 1724-1731.
    Goto Top
  55. Sharon,D., Al-Hamdani,S., Engelsberg,K., Mizrahi-Meissonnier,L., Obolensky,A., Banin,E., Sander,B., Jensen,H., Larsen,M., and Schatz,P. Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene. 2014; Am.J.Ophthalmol. 157: 697-709.
    Goto Top
  56. Sodi,A., Menchini,F., Manitto,M.P., Passerini,I., Murro,V., Torricelli,F., and Menchini,U. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients. 2011; Mol.Vis. 17: 3078-3087.
    Goto Top
  57. Sodi,A., Passerini,I., Simonelli,F., Testa,F., Menchini,U., and Torricelli,F. A novel mutation in the VMD2 gene in an Italian family with Best maculopathy. 2007; J.Fr.Ophtalmol. 30: 616-620.
    Goto Top
  58. Sohn,E.H., Francis,P.J., Duncan,J.L., Weleber,R.G., Saperstein,D.A., Farrell,D.F., and Stone,E.M. Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. 2009; Arch Ophthalmol. 127: 913-920.
    Goto Top
  59. Vincent,A., Wright,T., Billingsley,G., Westall,C., and Heon,E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. 2011; Ophthalmic Genet.
    Goto Top
  60. Wabbels,B., Preising,M.N., Kretschmann,U., Demmler,A., and Lorenz,B. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. 2006; Graefes Arch.Clin.Exp.Ophthalmol. 244: 1453-1466.
    Goto Top
  61. Wittström,E., Ekvall,S., Schatz,P., Bondeson,M.L., Ponjavic,V., and Andreasson,S. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 2011; Ophthalmic Genet. 32: 83-96.
    Goto Top
  62. Wittström,E., Ponjavic,V., Bondeson,M.L., and Andreasson,S. Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. 2011; Ophthalmic Genet. 32: 217-227.
    Goto Top
  63. Wong,R.L., Hou,P., Choy,K.W., Chiang,S.W., Tam,P.O., Li,H., Chan,W.M., Lam,D.S., Pang,C.P., and Lai,T.Y. Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. 2010; Retina. 30: 820-827.
    Goto Top
  64. Yanagi,Y., Sekine,H., and Mori,M. Identification of a novel VMD2 mutation in Japanese patients with Best disease. 2002; Ophthalmic Genet. 23: 129-133.
    Goto Top
  65. Yardley,J., Leroy,B.P., Hart-Holden,N., Lafaut,B.A., Loeys,B., Messiaen,L.M., Perveen,R., Reddy,M.A., Bhattacharya,S.S., Traboulsi,E., Baralle,D., De Laey,J.J., Puech,B., Kestelyn,P., Moore,A.T., Manson,F.D., and Black,G.C. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 2004; Invest Ophthalmol Vis.Sci. 45: 3683-3689.
    Goto Top
  66. Yu,K., Qu,Z., Cui,Y., and Hartzell,H.C. Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. 2007; Invest Ophthalmol Vis.Sci. 48: 4694-4705.
    Goto Top
  67. Yu,K., Xiao,Q., Cui,G., Lee,A., and Hartzell,H.C. The best disease-linked Cl- channel hBest1 regulates Cav1 (L-type) Ca2+ channels via src-homology-binding domains. 2008; J.Neurosci. 28: 5660-5670.
    Goto Top
  68. Zhao,L., Grob,S., Corey,R., Krupa,M., Luo,J., Du,H., Lee,C., Hughes,G., Lee,J., Quach,J., Zhu,J., Shaw,P.X., Kozak,I., and Zhang,K. A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. 2012; Eye (Lond). 26: 866-871.
    Goto Top