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DATABASES

Mutation Databases

G-Protein-coupled Receptor 143 (GPR143)

Recent update from: 16.05.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Mutation Map

NCBI GenBank: 4935 - Gen Map (Built: GRCH37): 9693453-9733916

doublehelixThe 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 according to Schiaffino et al. (1995).
Phenotype
Mutation
Basechange
Codon (Nucleotide)
Exon
Restriction site
HGMD / dbSNP
OMIM
Remarks
Reference
OA1 Group I





  • Wild type glycosylation
  • Cytoplasmic vesicular distribution
  • concentration in the perinuclear area spreading towards periphery
  • Co-localization with lysosomal markers
  • Link(4)
    OA1 Group II





  • Fine reticular distribution
  • Heavy staining of the nuclear membrane
  • Protein accumulation in ER
  • May affect correct folding
  • Prevent proper glycosylation
  • Link(4)
    Polymorphism c.-251c>t ccc tc>cct tc 0000 (c.-0251) 5'UTR



    Link(21)
    OA1 Exon 1-8 incl. Del
    001 (c.0001) 1

    HGMD listed




    Patients: BCM-XL-266-02
    Link(1)
    OA1 Exon 1-2 incl. Del
    001 (c.0001) 1



    Patients: Chinese
    Link(27)
    OA1 Deletion Exon 1 4800bp del 001 (c.0001) 1

    HGMD listed




    Patients: RG
    Link(1)
    OA1 Deletion Exon 1
    001 (c.0001) 1

    HGMD listed




    Patients: OAP-12, OAP-31, OAP-25,
    Link(23)
    OA1 Exon 1-8 incl. Del
    001 (c.0001) 1



    Link(2)
    OA1 Full gene del 800 bp deletion 001 (c.0001) 1



    Link(24)
    OA1 Arg 5 Cys CGC>TGC 005 (c.0013) 1 -CfoI

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
  • Link(4)
    Link(1)
    Link(17)
    OA1 His 30 Asp CAC>GAC 030 (c.0088) 1 +TaqI


    Link(17)
    OA1 Gly 35 Asp GGC>GAC 035 (c.0104) 1

    HGMD listed

    rs62635018

    V: 08
  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    GroupII
  • Link(22)
    Link(4)
    Link(1)
    OA1 Leu 39 Arg CTC>CGC 039 (c.0116) 1

    HGMD listed




    Missense
    Link(14)
    Link(19)
    OA1 c.151delGGCCGCC CCC GGC CGC CGG CCC GCG >CCC ___ ___ _GG CCC GCG 051 (c.0151) 1


    Previously reported as c.211del7bp
    Micro
    Deletion
    Patients: France
    Link(1) Link(7)
    NYS6 c.161del37bp CGG CCC GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG GCC TCG GTC>CGG C__ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ _CG GTC 054 (c.0161) 1

    V: 11
    Reported as c.222_258del37
    Patients: Chinese
    Link(28)
    OA1 c.163dupGCGGGCCCC CCC GCG GGC CCC GGG>CCC GCG GGC CCG CGG GCC CCG GG 055 (c.0163) 1



    Patients: French, sporadic
    Link(12)
    OA1 c.165del29bp GCG GGC CCC GGG TCC CCC GCG ACG TCC CCG CCG>G__ ___ ___ ___ ___ ___ ___ ___ ___ ___ CCG 055 (c.0165) 1 -TaaI


    Link(14)
    Link(20)
    Link(17)
    OA1 c.175delT GGG TCC>GGG _CC 059 (c.0175) 1

    HGMD listed



    Previously reported as c.235delT
    Micro
    Deletion
    Link(1)
    OA1 c.175insC GGG TCC CCC GCG>GGG TCC CCC CGC G 059 (c.0175) 1

    HGMD listed



    Previously reported as c.180insC
    Micro
    Deletion
    Link(1)
    OA1 c.191delC ACG TCC CCG CCG>ACG TCC C_G CCG 064 (c.0191) 1


    reported as c.250delC
    Link(8)
    OA1 c.195delCCGG TCC CCG CCG GCC TCG>TCC CCG CC_ ___ TCG 065 (c.0195) 1


    reported as c.252del4bp
    Micro
    Deletion
    Link(7)
    OA1 c.215del17bp CTG CGC GCT GCC GCT GCC TGC GAC>CTG C__ ___ ___ ___ ___ ___ GAC 071 (c.0215) 1

    HGMD listed


    V: 02
    Previously reported as c.275del17bp
    Deletion
    Patients: OAP-9
    Link(22) Link(23)
    Link(1)
    OA1 c.222del37bp GCT GCC GCT GCC TGC GAC CTT CTC GGC TGC CTG G gtaag ggcgc>GCT GC_ ___ ___ ___ ___ ___ ___ ___ ___ ___ _ _____ __cgc 074 (c.0222) 2



    Link(28)
    NYS6 c.231dup19bp TGC GAC CTT CTC GGC TGC CTG G gtaag>TGC GAC CTT CTC GGC TGC CTG CGA CCT TCT CGG CTG CCT GG gtaag 075 (c.0231) 1

    V: 12
    Reported as c.201-309dup19
    Patients: Chinese
    Link(15)
    OA1 Asp 78 Asn GAC>AAC 078 (c.0232) 1

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
  • No IR in human melanocytes
    Missense
    Group II
  • Link(4)
    Link(1)
    Link(7)
    OA1 Asp 78 Val GAC>GTC 078 (c.0233) 1

    HGMD listed




    Missense
    Link(14)
    Link(19)
    OA1 c.237delTCT CTT CTC GGC>CT_ __C GGC 079 (c.0237) 1



    Link(5)
    OA1 Gly 81 Val GGC>TGC 081 (c.0241) 1



    Patients: French, familiar
    Link(12)
    OA1 Deletion Exon 2
    084 (c.0250) 2

    HGMD listed




    Micro
    Deletion
    Patients: OAP-17, OAP-22
    Link(23)
    OA1 Gly 84 Arg GGT>CGT 084 (c.0250) 2 -BstNI

    HGMD listed




    Missense
    Patients: OAP-30
    Link(23)
    OA1 Deletion Exon 2 - 8
    084 (c.0250) 2

    HGMD listed




    Micro
    Deletion
    Patients: OAP-14, OAP-21, OAP-23, OAP-24, OAP-27, OAP-33
    Link(23)
    Link(9)
    Link(7)
    OA1 Deletion Exon 2 - 8
    084 (c.0250) 2



    Micro
    Deletion
    Patients: BCM-XL-291-02, BCM-XL-293-02
    Link(1)
    OA1 Deletion Exon 2 900bp del 084 (c.0250) IVS1

    HGMD listed




    Micro
    Deletion
    Patients: BCM-XL-277-01
    Link(22)
    Link(1)
    Link(7)
    OA1 Deletion IVS1 - Exon 2 200bp del 084 (c.0250) IVS1



    Micro
    Deletion
    Patients: BA404
    Link(22)
    Link(1)
    OA1 Deletion Exon 2 1000bp del 084 (c.0250) IVS1

    HGMD listed




    Micro
    Deletion
    Patients: BA390
    Link(22)
    Link(1)
    OA1 Deletion IVS1 - IVS2 3100bp del 084 (c.0250) IVS1

    HGMD listed




    Micro
    Deletion
    Patients: BA204
    Link(22)
    Link(1)
    SNP c.251delG cttag GT ATG>cttag _T ATG 084 (c.0251) 1

    rs34876833



    dbSNP
    OA1 Deletion Exon 2 g.5360_6371del1012 084 (c.0251) 2



    Patients: Italian
    Link(13)
    OA1 Gly 84 Asp GGT>GAT 084 (c.0251) 2

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Splice Site Mutation
    Group II
    Patients: French
  • Link(22)
    Link(4)
    Link(1)
    Link(3)
    Link(7)
    OA1 IVS1-1g>c tag GT>tac GT 084 (c.0251) IVS1 +SnaBI

    HGMD listed




    Splice Site Mutation
    Patients: OAP-7
    Link(23)
    OA1 Ser 89 Phe TCC>TTC 089 (c.0266) 2

    V: 09

    Link(11)
    OA1 c.268delACC TCC ACC GTG>TCC ___ GTG 090 (c.0268) 2



    Link(17)
    OA1 c.310delG TCG GAT>TCG _AT 104 (c.0310) 2

    rs34876833



    Link(14)
    Link(19)
    Link(6)
    OA1 Trp 111 ter TGG>TGA 111 (c.0333) 2 -HaeIII


    Link(17)
    OA1 c.336insC TGG CCT>TGG CCC T 112 (c.0336) 2



    Link(17)
    OA1 Cys 116 Ser TGC>TCC 116 (c.0346) 2

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
  • Link(4)
    Link(1)
    OA1 Cys 116 Arg TGC>CGC 116 (c.0346) 2 +BstUI

    HGMD listed




    Missense
    Patients: OAP-26
    Link(23)
    OA1 Cys 116 Gly TGC>GGC 116 (c.0346) 2



    Link(8)
    OA1 Cys 116 Trp TGC>TGT 116 (c.0348) 2



    Patients: Canadian, sporadic
    Link(12)
    OA1 Gly 118 Glu GGG>GAG 118 (c.0353) 2

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
    Patients: OAP-8
  • Link(23)
    Link(4)
    Link(1)
    Link(5)
    OA1 Ala 120 Ala GCG gtg>GCA gtg 120 (c.0360) 2

    HGMD listed


    V: 07

    Link(14)
    Link(19)
    Polymorphism IVS2+13c>g cccct>ccgct 120 (c.0360) IVS2



    Link(19)
    OA1 IVS2+5g>c gagtc>gactc 120 (c.0360) IVS2

    HGMD listed




    Splice Site Mutation
    Link(22)
    Link(1)
    OA1 Deletion Exon 3 1172bp del 121 (c.0361) 3

    HGMD listed




    Patients: BCM-XL-318-02
    Link(1)
    OA1 Gln 124 Arg CAG>CGG 124 (c.0371) 2

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group I
  • Link(4)
    Link(1)
    OA1 Trp 132 Arg TGG>CGG 132 (c.0394) 3



    Link(18)
    OA1 Trp 133 Arg TGG>CGG 133 (c.0397) 3 +HpaII, + MspI

    HGMD listed


    V: 03
  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
    Patients: OAP-11, OAP-20
  • Link(23)
    Link(4)
    OA1 Trp 133 Arg TGG>AGG 133 (c.0397) 3

    HGMD listed


    V: 06

    Missense
    Link(14)
    Link(19)
    SNP c.399insG TGG CTG>TG_ CTG 133 (c.399) 3

    rs35528779



    dbSNP
    OA1 Leu 134 Pro GGC>GAC 134 (c.0401) 3



    Patients: Canadian
    Link(3)
    Link(12)
    OA1 c.402delG CTG TTT>CT_ TTT 134 (c.0402) 3

    HGMD listed



    Previously reported as c.462delG
    Patients: OAP-32
    Link(23)
    OA1 Ala 138 Val GCA>GTA 138 (c.0413) 3 -MwoI

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group I
    Patients: OAP-1
  • Link(23)
    Link(4)
    SNP Arg 147 Lys AGA>AAA 147 (c.440) 3

    rs58068096



    dbSNP
    OA1 c.445insAGATCGG TCG GCA GGA>TCG GAG ATC GGC AGG A 149 (c.0445) 3 +Sau3AI, +MboI, +DpnI, +DpnII

    HGMD listed



    Previously reported c.505ins7bp
    Link(22)
    Link(1)
    OA1 Ser 152 Asn AGC>AAC 152 (c.0455) 3 -DdeI

    HGMD listed


    V: 04
  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Splice Site Mutation
    Group I
    Patients: OAP-26
  • Link(23)
    Link(4)
    OA1 IVS3+1g>c AG gta>AG cta 152 (c.0455) IVS 3

    HGMD listed



    reported as c.515g>c
    Link(1)
    Link(7)
    OA1 Deletion IVS3 - IVS8
    152 (c.0455) IVS3

    HGMD listed




    Patients: BA460
    Link(22)
    Link(1)
    OA1 Deletion Exon 4
    152 (c.0456) 4

    HGMD listed




    Patients: OAP-6, OAP-19
    Link(23)
    OA1 Deletion Exon 4 - 5
    152 (c.0456) 4

    HGMD listed




    Patients: OX1
    Link(1)
    OA1 Gly 163 Asp GGC>GAC 163 (c.0488) 4



    Patients: French
    Link(3)
    OA1 Thr 166 Asn ACC>AAC 166 (c.0497) 4



    Patients: French, sporadic
    Link(12)
    OA1 c.504delTC CTG CTC TGT >CTG CT_ _GT 168 (c.0504) 4



    Patients: French, sporadic
    Link(12)
    OA1 Ala 173 Asp GCC>GAC 173 (c.0518) 4 -NlaIV, -Fmu4HI, +HgaI, +AhaII, +BsmAI

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
  • Link(22)
    Link(4)
    Link(1)
    OA1 IVS4+2t>a AG gtaa>AG gaaa 183 (c.0548) IVS4



    Patients: Canadian, sporadic
    Link(12)
    OA1 Glu 185 Lys GAG>AAG 185 (c.0553) 5



    Link(18)
    OA1 c.556insC GAG CGG>GAG CCG G 186 (c.0556) 5



    Link(18)
    OA1 Arg 186 Trp CGG>TGG 186 (c.0556) 5



    Link(18)
    OA1 Arg 186 Pro CGG>CCG 186 (c.0557) 5



    Link(18)
    OA1 c.564delCT GGC CTG>GGC __G 188 (c.0564) 5



    Patients: Italian
    Link(13)
    SNP His 190 His CAC>CAT 190 (c.0570) 5

    rs61733440



    dbSNP
    SNP His 190 Gln CAC>CAA 190 (c.0570) 5

    rs61733440



    dbSNP
    SNP His 190 His CAC>CAG 190 (c.0570) 5

    rs61733440



    dbSNP
    OA1 c.601insT CTG CCC CTG>CTG TCC CCTG 201 (c.0601) 5



    Patients: Canadian, sporadic
    Link(12)
    OA1 del gene g.1103-g.7266 (6164 bp) 211 (c.0361) 2



    Link(5)
    OA1 Gln 214 ter CAA>TAA 214 (c.0640) 7



    Link(10)
    OA1 IVS5+1g>a GCA G gtaa>GCA G ataa 220 (c.0658) IVS5



    Link(5)
    OA1 Deletion Exon 6
    220 (c.660) 6



    Link(6)
    OA1 c.677delG AAA GGA>AAA G_A 226 (c.0677) 6

    HGMD listed



    Previously reported as c.737delG
    Link(1)
    Link(7)
    Link(18)
    OA1 Gly 229 Val GGC>GTC 229 (c.0686) 6

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group I
  • Link(4)
    Link(1)
    Link(17)
    OA1 Thr 232 Lys ACG>AAG 232 (c.0695) 6

    HGMD listed


    V: 05
  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group II
    Patients: OAP-28
  • Link(23)
    Link(4)
    OA1 Glu 233 Lys GAG>AAG 233 (c.0697) 6



    Missense
    Link(14)
    Link(19)
    OA1 Glu 235 Lys GAG>AAG 235 (c.0705) 6

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group I
    Patients: OAP-35
  • Link(23)
    Link(4)
    OA1 c.720delG GGA GCC>GGA _CC 240 (c.0720) 6 -NlaIV


    Link(18)
    Link(17)
    OA1 Ile 244 Val ATC>GTC 244 (c.0730) 6

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
  • Has been reported as I244K
    Missense
    Group I
  • Link(1)
    Link(4) Link(7)
    OA1 Arg 245 ter CGA>TGA 245 (c.0735) 6 -AlwI

    HGMD listed




    Patients: OAP-10
    Canadian
    Link(23)
    Link(1)
    Link(3) Link(7)
    Link(17)
    OA1 c.756del14bp CTG GTT TTA ATT ATT TG gtaac>CTG GT_ ___ ___ ___ __ __aac 252 (c.0756) 6 -Tsp509I

    Previously reported as c.816del14bp
    Patients: 074
    Link(16)
    Polymorphism IVS6+10c>g ttc tt>ttg tt 256 (c.0767) IVS6



    Link(21)
    OA1 Deletion Exon 7 - 8
    256 (c.0768) 7



    Link(6)
    OA1 del exon 7
    256 (c.0768) exon 7



    Link(17)
    OA1 IVS6-2delagTT aacag T TGG>aac__ _ _GG 256 (c.0768) IVS6



    Link(17)
    OA1 Ile 261 Asn ATC>AAC 261 (c.0779) 6

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
  • Link(4)
    Link(1)
    OA1 Asn 263 Lys AAT>AAG 263 (c.0789) 7



    Link(17)
    OA1 Glu 271 Gly GAG>GGG 271 (c.0812) 7

    HGMD listed



  • Full glycosylation
  • Lysosomal
  • Wild type yield
    Missense
    Group I
  • Link(4)
    Link(1)
    OA1 Ile 276 Val ATC>AGC 276 (c.0827) 7 -EcoRV
    V: 10
    associated with G312V
    Link(17)
    OA1 c.849delT CCT GTC>CC_ GTC 283 (c.0849) 7



    Link(5)
    OA1 Arg 285 ter GGC>GAC 285 (c.0853) 6



    Patients: Canadian
    Link(3)
    Link(12)
    OA1 c.868delACC AAG ACC ACA>AAG ___ ACA 290 (c.0868) 7

    HGMD listed



    Previously reported as Thr 290 del
    • Defective glycosylation
    • Reduced yield
    • ER retention
      Deletion
    Link(22)
    Link(4)
    Link(1)
    OA1 Trp 292 Gly TGG>GGG 292 (c.0874) 7 -NlaIII

    HGMD listed



  • Defective glycosylation
  • Reduced yield
  • ER retention
    Missense
    Group II
  • Link(22)
    Link(4)
    Link(1)
    OA1 Trp 292 Cys TGG>TGT 292 (c.0876) 7

    HGMD listed




    Micro
    Deletion
    Link(1) Link(7)
    OA1 Trp 292 ter TGG>TGA 292 (c.0876) 7

    HGMD listed




    Link(1)
    OA1 IVS7-2a>t ccag GT>cctg GT 292 (c.0886) IVS7



    Micro
    Deletion
    Patients: Canadian, sporadic
    Link(12)
    OA1 IVS7+1g>a ATG gta>ATG cta 294 (c.0885) IVS 7

    HGMD listed



    Previously reported as 945+1g-a
    Micro
    Deletion
    Link(1)
    OA1 IVS2+748g>a
    294 (c.0885) IVS7



    Link(25)
    OA1 del gene g.25985-g.26546 (562 bp) 296 (c.0886) 8



    Link(5)
    OA1 c.932insCG TAC GGC>TAC CGG GC 311 (c.0932) 8 -BceFI, +Fnu4HI, +BstUI

    HGMD listed

    rs62635047

    V: 01
    Previously reported as c.992insCG
    Insertion
    Link(22)
    Link(1)
    OA1 Tyr 311 ter TAC>TAG 311 (c.0933) 7



    Link(18)
    OA1 Gly 312 Val GGC>GTC 312 (c.0935) 8 +Hpy188III

    associated with G312V
    Link(17)
    OA1 Gly 315 ter GGA>TGA 315 (c.0943) 8



    Link(26)
    SNP Met 346 Val ATG>GTG 346 (c.1036) 7

    rs34324958



    dbSNP
    Polymorphism c.1349c>t c>t 404 (c.1349) 3'UTR


    reported c.1409c>t
    Link(19)
         

    References:

    1. Bassi,M.T., Bergen,A.A., Bitoun,P., Charles,S.J., Clementi,M., Gosselin,R., Hurst,J., Lewis,R.A., Lorenz,B., Meitinger,T., Messiaen,L., Ramesar,R.S., Ballabio,A., and Schiaffino,M.V. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 2001; Hum.Genet. 108: 51-54.
      Link Goto Top
    2. Burns,W.N., Schiaffino,M.V., and Lewis,R.A. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. 1998; Fertil.Steril. 70: 1169-1172.
      Link Goto Top
    3. Camand,O., Boutboul,S., Arbogast,L., Roche,O., Sternberg,C., Sutherland,J., Levin,A., Heon,E., Menasche,M., Dufier,J., and Abitbol,M. Mutational analysis of the OA1 gene in ocular albinism. 2003; Ophthalmic Genet. 24: 167-173.
      Link Goto Top
    4. d'Addio,M., Pizzigoni,A., Bassi,M.T., Baschirotto,C., Valetti,C., Incerti,B., Clementi,M., De Luca,M., Ballabio,A., and Schiaffino,M.V. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. 2000; Hum.Mol.Genet. 9: 3011-3018.
      Link Goto Top
    5. Fang,S., Guo,X., Jia,X., Xiao,X., Li,S., and Zhang,Q. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. 2008; Mol.Vis. 14:1974-82. Epub@2008 Oct 30.: 1974-1982.
      Link Goto Top
    6. Faugere,V., Tuffery-Giraud,S., Hamel,C., and Claustres,M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. 2003; BMC.Genet. 4: 7
      Link Goto Top
    7. Hegde,M., Lewis,R.A., and Richards,C.S. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. 2002; Genet Test. 6: 7-14.
      Link Goto Top
    8. Iannaccone,A., Tedesco,S.A., Gallaher,K.T., Yamamoto,H., Charles,S., and Dryja,T.P. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. 2007; Doc.Ophthalmol. 115: 111-116.
      Link Goto Top
    9. Lam,B.L., Fingert,J.H., Shutt,B.C., Singleton,E.M., Merin,L.M., Brown,H.H., Sheffield,V.C., and Stone,E.M. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). 1997; Ophthalm.Genet. 18: 175-184.
      Link Goto Top
    10. Lauronen,L., Jalkanen,R., Huttunen,J., Carlsson,E., Tuupanen,S., Lindh,S., Forsius,H., Sankila,E.M., and Alitalo,T. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. 2005; Br.J.Ophthalmol. 89: 820-824.
      Link Goto Top
    11. Liu,S., Li,P., Dybkov,O., Nottrott,S., Hartmuth,K., Luhrmann,R., Carlomagno,T., and Wahl,M.C. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 2007; Science. 316: 115-120.
      Link Goto Top
    12. Mayeur,H., Roche,O., Vetu,C., Jaliffa,C., Marchant,D., Dollfus,H., Bonneau,D., Munier,F.L., Schorderet,D.F., Levin,A.V., Heon,E., Sutherland,J., Lacombe,D., Said,E., Mezer,E., Kaplan,J., Dufier,J.L., Marsac,C., Menasche,M., and Abitbol,M. Eight previously unidentified mutations found in the OA1 ocular albinism gene. 2006; BMC.Med.Genet. 7:41.: 41
      Link Goto Top
    13. Micale,L., Augello,B., Fusco,C., Turturo,M.G., Granatiero,M., Piemontese,M.R., Zelante,L., Cecconi,A., and Merla,G. GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 2009; Genet.Test.Mol.Biomarkers. 13: 527-531.
      Link Goto Top
    14. Oetting,W.S. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. 2002; Hum Mutat. 19: 85-92.
      Link Goto Top
    15. Peng,Y., Meng,Y., Wang,Z., Qin,M., Li,X., Dian,Y., and Huang,S. A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 2009; Mol.Vis. 15:810-4. Epub@2009 Apr 22.: 810-814.
      Link Goto Top
    16. Preising,M., op de Laak,J.P., and Lorenz,B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. 2001; Br.J.Ophthalmol. 85: 1098-1103.
      Link Goto Top
    17. Preising,M.N., Forster,H., Gonser,M., and Lorenz,B. Mutations screening of TYR, OCA2, GPR143, and MC1R in Patients Identified by Congenital Nystagmus, Macular Hypoplasia and Hypopiogmentatof the Fundus; the Classical Features of Ocular and Oculocutaneous Albinism. 2010; submitted.
      Goto Top

    18. Roma,C., Ferrante,P., Guardiola,O., Ballabio,A., and Zollo,M. New mutations identified in the ocular albinism type 1 gene. 2007; Gene. 402: 20-27.
      Link Goto Top
    19. Rosenberg,T. and Schwartz,M. X-linked ocular albinism: prevalence and mutations--a national study. 1998; Eur.J.Hum.Genet. 6: 570-577.
      Link Goto Top
    20. Rudolph,G., Meindl,A., Bechmann,M., Schworm,H.D., Achatz,H., Boergen,K.P., Kampik,A., Berninger,T., and Meitinger,T. X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. 2001; Graefes Arch.Clin.Exp.Ophthalmol. 239: 167-172.
      Link Goto Top
    21. Sallmann,G.B., Bray,P.J., Rogers,S., Quince,A., Cotton,R.G., and Carden,S.M. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. 2006; Ophthalmic Genet. 27: 43-49.
      Link Goto Top
    22. Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., Denigris,F., Bergen,A.A.B., Charles,S.J., Yates,J.R.W., Meindl,A., Lewis,R.A., King,R.A., Ballabio,A., De Nigris,F., and Yates,J.R. Analysis of the OA1 gene reveals mutations in only one third of patients with X-linked ocular albinism. 1995; Hum.Mol.Genet. 4: 2319-2325.
      Link Goto Top
    23. Schnur,R.E., Gao,M., Wick,P.A., Keller,M., Benke,P.J., Edwards,M.J., Grix,A.W., Hockey,A., Jung,J.H., Kidd,K.K., Kistenmacher,M., Levin,A.V., Lewis,R.A., Musarella,M.A., Nowakowski,R.W., Orlow,S.J., Pagon,R.S., Pillers,D.A., Punnett,H.H., Quinn,G.E., Tezcan,K., Wagstaff,J., and Weleber,R.G. OA1 mutations and deletions in X-linked ocular albinism. 1998; Am.J.Hum.Genet. 62: 800-809.
      Link Goto Top
    24. Tijmes,N.T., Bergen,A.B., and de Jong,P.T. Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. 1998; Br.J.Ophthalmol. 82: 457-458.
      Link Goto Top
    25. Vetrini,F., Tammaro,R., Bondanza,S., Surace,E.M., Auricchio,A., De,L.M., Ballabio,A., and Marigo,V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. 2006; Hum.Mutat. 27: 420-426.
      Link Goto Top
    26. Wang,Y., Guo,X., Wei,A., Zhu,W., Li,W., and Lian,S. Identification of a novel mutation in a Chinese family with X-linked ocular albinism. 2009; Eur.J.Ophthalmol. 19: 124-128.
      Link Goto Top
    27. Xiao,X. and Zhang,Q. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. 2009; Am.J.Med.Genet.A. 149A: 1786-1788.
      Link Goto Top
    28. Zhou,P., Wang,Z., Zhang,J., Hu,L., and Kong,X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. 2008; Mol.Vis. 14:1015-9.: 1015-1019.
      Link Goto Top
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