Scientific Mutation Database
Mutations of the Retinal Guanylate Cyclase Gene and the
Retinal Guanylate Cyclase-activating Protein Gene

Recent update from: 11.04.2006


Retinal Guanylate Cyclase 1
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Mutation map





Map

Sequence Italics: Mutation can be tested by a LCA-Microarray




The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as recommended by HGVS.



LCA -24delG GGA CTT>G_A CTT c.-0024 5' UTR

Homozygous
Compound:
  • single



(3)
(5)
Microarray Met 1 Lys ATG>AAG c.0002 02




CORD Met 1 Ile ATG>ATA c.0003 02

Activity reduced
Benin
Compound:
  • Homozygous


Patients: 11
goto HGMD
(28)
(26)
CORD Met 1 Ile ATG>ATC c.0003 02

Activity reduced
French
Compound:
  • Homozygous
  • IVS9-1g-t


Patients: 51
goto HGMD
(26)
CORD 52dup48bp GGT CCC GCG TGG TGG GCT CCG TCC CTG CCC CGC CTC CCC CGG GCC CTG c.0052 02

Tunesian
  • Homozygous


Patients: 85
goto HGMD
(26)
Polymorphism Trp 21 Arg TGG/CGG c.0061 02

Activity normal


(28)
Microarray 87insC CTC CCC CGG>CTC CCC CCG G c.0087 02




CORD? Leu 41 Phe CTC>TTC c.0121 02

Activity normal
Tunisian
Compound:
  • Single


Patients: 89
goto HGMD
(28)
(26)
Polymorphism Ala 52 Ser GCT/TCT c.0154 02


600179-0004 (25)
CORD 226del14bp CTG GCC GCC CGC CTG GCC GCC>CTG ___ ___ ___ ___ __C GCC c.0226 02

Antillas
  • Homozygous


Patients: 110
goto HGMD
(26)
Microarray Glu 97 Gln GAG>CAG c.0289 02




Microarray Glu 103 Lys GAG>AAG c.0307 02




LCA Cys 105 Tyr TGC>TAC c.0314 02

Reduced activity
No total loss of function
Compound:
  • L325P
  • GCAP1 activation reduced
  • basic cGMP activity unchanged
  • extracellular domain

goto HGMD
(5)
(16)
(32)
CORD 387delC AAC CCT>AA_ CCT c.0387 02 -SmaI
  • Tunesian
  • Morrocian
  • Israelite
Compound
  • Homozygous


Patients: 3
90
91
118
goto HGMD 600179-0002 (25)
(26)
CORD Asn 129 Lys AAC>AAA c.0387 02

Activity normal
Italian
Compound
  • R995W


Patients: 82
goto HGMD
(28)
(26)
CORD 620delC GCC CGG>GC_ CGG c.0620 02 +BspMI
  • Tunisia
Compound:
  • Homozygous


Patients: 23
34
goto HGMD 600179-0003 (25)
(26)
Microarray Leu 260 Pro CTG>CCG c.0779 3




LCA Thr 312 Met ACG>ATG c.0935 03

Heterozygous
Compound:
  • Single



(9)
(8)
CORD Arg 313 Cys CGC>TGC c.0937 03

Activity normal
Italian
Compound
  • S448X


Patients: 52
goto HGMD
(28)
(26)
LCA Leu 325 Pro CTG>CCG c.0974 03

  • Reduced activity
  • No total loss of function
  • extracellular domain
  • GCAP1 activation reduced
  • basic cGMP activity unchanged

goto HGMD
(16)
(32)
(2)
Microarray Tyr 351 Cys TAT>TGT c.1052 04




Microarray Ala 362 Ser GCA>TCA c.1084 04




Polymorphism Val 373 Val GTC/GTA c.1117 04



(19)
Polymorphism Asp 412 Asp GAC/GAT c.1236 04 +MboI


(19)
CORD Ser 448 ter TCG>TAG c.1343 04

Italian
Compound
  • R313C


Patients: 52
goto HGMD
(26)
Polymorphism IVS4-28a/g cagta/cggta c.1379 IVS4 -DdeI, +BfaI


(4)
LCA 1424-1431dup GTC TCC GGC C>GTC TCC GGC CGTC TCC GGC C c.1424 05

goto HGMD
(18)
Microarray Leu 513 Phe CTC>TTC c.1537 06




Microarray IVS6+2t>c AAG gtggg>AAG gcggg c.1566 IVS06




LCA Ile 539 Val ATT>GTT c.1615 07

Heterozygous
Compound:
  • single
2 sisters with LCA due to E102X in RPE65 modified by RetGC1


(29)
CORD Arg 540 Cys CGC>TGC c.1618 07

Dutch
Compound
  • single


Patients: 117
goto HGMD
(26)
LCA Phe 565 Ser TTC>TCC c.1694 08

Homozygous
Compound:
  • R768W


Patients: 441
22597

600179-0001 (39)
CORD Phe 565 Ser TTC>TCC c.1694 08

Published as F589S
Algeria
Compound:
  • Homozygous


Patients: 7
17
36

600179-0001 (25)
(26)
LCA Ile 573 Val ATC>GTC c.1717 08

goto HGMD
(5)
LCA Pro 575 Leu CCA>CTA c.1724 07

Heterozygous
Compound
  • single




(17)
CORD 1806del25bp GG GGA GCA GAA GGC CCT GCG GCC CT c.1806 09

Previously reported as 1805del25bp
  • Mali
Compound:
  • Homozygous


Patients: 20
goto HGMD
(26)
CORD IVS9+2t>a AAG gtgtg>AAG gagtg c.1957 IVS9

Previously reported as 1956+2t-a
  • Moroccian
Compound:
  • Homozygous


Patients: 70
goto HGMD
(26)
CORD IVS9-1g>t caag GGA>caat GGA c.1957 IVS9

Previously reported as 1957-1g-t
  • French
Compound:
  • M1I


Patients: 51
goto HGMD
(26)
CORD IVS9-1g>a caag GGA>caaa GGA c.1957 IVS9

Previously reported as 1957-1g-a
  • Algerian
Compound:
  • M1009L


Patients: 88
goto HGMD
(26)
Microarray Gly 653 Arg GGA>AGA c.1957 10




LCA Arg 660 ter CGA>TGA c.1978 10

Published as R684X
goto HGMD
(31)
(18)
LCA Arg 660 Gln CGA>CAA c.1979 10

Published as R684Q
goto HGMD
(18)
Microarray 2078del8bp GAA GCA CAG AAG GTG>GAA G__ ___ ___ GTG c.2078 10




Microarray Glu 694 Lys CAG>AAG c.2080 10




ARRP Pro 701 Ser CCC>TCC c.2101 10 -ScrFI
Compound
  • single


Patients: 25855
8432
goto HGMD
(1)
LCA Pro 701 Ser CCC>TCC c.2101 10 -ScrFI
goto HGMD
(5)
Polymorphism Ala 703 Ala GCG/GCA c.2109 10 -BsrBI


(19)
LCA Tyr 746 Cys TAT>TGT c.2237 11

Homozygous
Published as Y770C
goto HGMD
(18)
Microarray Glu 750 ter GAG>TAG c.2248 11




LCA Arg 768 Trp CGG>TGG c.2302 12

Published as R792W
Homozygous
Compound:
  • F565S
  • A946V
  • single


Patients: 441
20955
21067
21557
22018
26669
goto HGMD
(18)
(39)
(1)
LCA Met 773 Leu ATG>CTG c.2317 12

Published as M797L
goto HGMD
(18)
Rare Variant Leu 782 His CTC>CTA c.2345 12



(19)
LCA Arg 795 Leu CGG>CTG c.2384 12

Activity abolished


(28)
CORD Glu 837 Asp GAG>GAC c.2511 13 -HhaI
Little effect on activation by GCAP1
goto HGMD 600179-0005 (37)
(14)
CORD6 = CORD5 Arg 838 Cys CGC>TGC c.2512 13 -HhaI
Increased apparent affinity for activation by GCAP1
Reduced suppression by Ca2+/GCAP1
Constitutive activy even at high [Ca++]
No rod degeneration in young patients
Cone affection followed by rod affection
goto HGMD 600179-0006 (37)
(34)
(33)
(12)
(15)
580.pdf>To online reference
CORD6/LCA Arg 838 Ser CGC>AGC c.2512 13 -HhaI
Introduces additional coil to coiled-coil domain
Reduced basal activity
GCAP1 affinity increased
allele in cis: E837D
goto HGMD
(10)
(35)
(37)
(23)
CORD Arg 838 Ser - Arg 838 Ser - Thr 839 Met GAG CGC ACG>GAC TGC ATG c.2512 13

Complex rearrangement


(27)
CORD Arg 838 Ser - Arg 838 Ser GAG CGC>GAC TGC c.2512 13

Complex rearrangement
goto HGMD 600179-0005 (10)
CORD6 = CORD5 Arg 838 His CGC>CAC c.2513 13

Maximum activity at pH 8.0
Basal activity slightly reduced
GCAP1 affinity increased
goto HGMD 600179-0008 (37)
(33)
(12)
(23)
580.pdf>To online reference
CORD Thr 839 Met ACG>ATG c.2516 13

goto HGMD 600179-0007 (27)
LCA Gln 855 ter CAG>TAG c.2564 13

goto HGMD
(7)
Microarray Met 856 Val ATG>GTG c.2566 13




LCA Pro 858 Ser CCT>TCT c.2572 13

  • Dominant negative
  • Strongly reduced activity
  • Stabilizes Mg2+ ions for cycling of GTP
  • Heterozygous
  • catalytical domain

goto HGMD
(3)
(5)
(16)
(35)
(32)
Polymorphism IVS13+37g/t agggc/atggc c.2576 IVS13 -PvuII


(19)
CORD Ile 915 Thr ATC>ATT c.2745 14

On the same allele with G917R



(12)
CORD Gly 917 Arg GGT>CGT c.2749 14

On the same allele with I915T



(12)
Microarray Ala 934 Pro GCC>CCC c.2800 15




LCA Ala 946 Val GCG>GTG c.2837 15

Compound
  • R768W


Patients: 21067


(39)
Microarray Ala 950 Val GCC>GTC c.2849 15




LCA Leu 954 Pro CTG>CCG c.2861 15

  • Dominant negative
  • Strongly reduced activity
  • Heterozygous
  • Compound
    • single
    • 3016delG
  • catalytical domain

goto HGMD
(3)
(5)
(16)
(17)
(32)
(9)
(8)
LCA 2899delC CGC CAT ATG>CGC _AT ATG c.2899 15

Published as del C in codon 991
goto HGMD
(18)
CORD Arg 976 Leu CGC>CTC c.2927 14

  • Turkish
  • Compound:
    • Homozygous


Patients: 31
goto HGMD
(26)
LCA 2943delG CAC TCG G gtaac>CAC TC_ G gtaac c.2943 15

  • Finnish founder mutation
    Homozygous
Heterozygous
Compound:
  • L954P
  • IVS16+4A>T

goto HGMD 600179-0009 (11)
(9)
(8)
(24)
538
775.pdf>To online reference
Microarray Cys 984 Tyr TGC>TAC c.2951 16




LCA Arg 995 Trp CGG>TGG c.2983 16

Activity abolished
Italian
Compound
  • N129K


Patients: 82
goto HGMD
(28)
(26)
CORD Met 1009 Leu ATG>TTG c.3025 16

Activity abolished
Belgium
Compound
  • IVS9-1g-a


Patients: 88
goto HGMD
(28)
(26)
CORD IVS16+4a>t tgag t>tgtg t c.3043 IVS16

Compound
  • 2943delG




(24)
CORD His 1019 Pro CAC>CCC c.3055 17

Activity abolished
Pakistan
Compound:
  • Homozygous


Patients: 56
goto HGMD
(28)
(26)
LCA 3055del10bpins4bp ATC CAC GTG AAC TTG>ATC ACA GTG c.3055 17

Homozygous
goto HGMD
(5)
CORD 3078delGA GTG GGG ATT CTC>GTG GG_ _TT CTC c.3078 17

  • Previously reported as 3201delGA
  • Algeria
  • Compound:
    • Homozygous


Patients: 33
goto HGMD
(26)
CORD Gln 1036 ter CAG>TAG c.3106 17

French
Compound
  • single


Patients: 72
goto HGMD
(26)
LCA Gln 1036 His CAG>CAT c.3108 17

Activity abolished


(28)
LCA Arg 1040 Gly CGA>GGA c.3118 17

Homozygous
published as R1064G

Patients: ###
goto HGMD
(18)
Microarray Arg 1040 ter CGA>TGA c.3118 02




Polymorphism IVS17+34g/t ccccg/cccct c.3138 17 -MnlI


(4)
Microarray Gly 1061 Ser GGC>AGC c.3181 19




EOSRP 3205delC AAA CCG>AAA _CG c.3205 18

Compound
    Single



Patients: 25556


(1)
EOSRP 3236insACCA AAC CAC GGC>AAC CAA CCA CGG C c.3236 19






(24)
Polymorphism Leu 1094 Leu CTG/CTT c.3280 19 +BfaI


(5)
Polymorphism 3455c/t gttct/gttct c.3455 20



(19)

Retinal Guanylate Cyclase Activating Protein 1
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence





The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.



ACHM IVS3+171delg g/_ c.
IVS3

Heterozygous

Patients: 065-011


(21)
ACHM -26a/g a/g c.-026 5' UTR

Heterozygous

Patients: 065-001


(21)
adCRD Pro 50 Leu
c.150 2

Heterozygous


(6)
COD Tyr 99 Cys TAT>TGT c.296 02

Altered Ca2+ sensitivity


(38)
adCRD Tyr 99 Cys TAT>TGT c.296 2

Heterozygous
goto HGMD
(22)
(6)
(20)
Atypical RP Thr 114 Ile C>T c.341 2

Heterozygous

Patients: 199-005


(21)
adCRD Ile 143 Asn-Thr del T > ins ACAC c.428 2

Heterozygous
effecting the EF4-Ca++ binding site
Mutation creates conformation susceptible for degradation

Patients: 195-001


(21)
CORD6 Leu 150 Phe C>T c.450 4

Heterozygous
decreases CA++-sensitivity of RetGC1
persistent stimulation of RetGC1 in the dark
gain of function mutation


(30)
CORD6 Leu 151 Phe C>T c.451 4

Conserved residue in vertebrate GCAPs


(13)
CORD Glu 155 Gly
c.
4






(36)
MD, ACHM Asp 189 Asp C>T c.577 4

Heterozygous

Patients: 111-007
270-03


(21)

References

  1. Booij,J.C., Florijn,R.J., ten Brink,J.B., Loves,W., Meire,F., van Schooneveld,M.J., de Jong,P.T., and Bergen,A.A. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. 2005; J.Med.Genet. 42: e67 Link Goto Top
  2. Dharmaraj,S., Leroy,B.P., Sohocki,M.M., Koenekoop,R.K., Perrault,I., Anwar,K., Khaliq,S., Devi,R.S., Birch,D.G., De Pool,E., Izquierdo,N., Van Maldergem,L., Ismail,M., Payne,A.M., Holder,G.E., Bhattacharya,S.S., Bird,A.C., Kaplan,J., and Maumenee,I.H. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. 2004; Arch.Ophthalmol. 122: 1029-1037. Link Goto Top
  3. Dharmaraj,S., Silva,E., Li,Y.Y., Loyer,M., Koenekoop,R.K., and Maumenee,I.H. Mutational Analysis In One Hundred Consecutive Patients With Leber Congenital Amaurosis. 1999; Invest.Ophthalmol.Vis.Sci. 40: S565 Goto Top
  4. Dharmaraj,S., Silva,E., Li,Y.Y., Loyer,M., Pina,A.L., Sunness,J., Koenekoop,R.K., and Maumenee,I.H. Modifying Factors In Leber Congenital Amaurosis. 2000; Invest.Ophthalmol.Vis.Sci. S196 Goto Top
  5. Dharmaraj,S.R., Silva,E.R., Pina,A.L., Li,Y.Y., Yang,J.M., Carter,C.R., Loyer,M.K., El Hilali,H.K., Traboulsi,E.K., Sundin,O.K., Zhu,D.K., Koenekoop,R.K., and Maumenee,I.H. Mutational analysis and clinical correlation in leber congenital amaurosis. 2000; Ophthalm.Genet. 21: 135-150.
    Link Goto Top
  6. Downes,S.M., Holder,G.E., Fitzke,F.W., Payne,A.M., Warren,M.J., Bhattacharya,S.S., and Bird,A.C. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 2001; Arch.Ophthalmol. 119: 96-105.
    Link Goto Top
  7. El Shanti,H., Al Salem,M., El Najjar,M., Ajlouni,K., Beck,J., Sheffield,V.C., and Stone,E.M. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. 1999; J.Med.Genet. 36: 862-865.
    Link Goto Top
  8. Galvin,J.A., Fishman,G.A., Stone,E.M., and Koenekoop,R.K. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. 2005; Ophthalmology. 112: 349-356. Link Goto Top
  9. Galvin,J.A., Fishman,G.A., Stone,E.M., and Koenekoop,R.K. Evaluation of genotype-phenotype associations in leber congenital amaurosis. 2005; Retina. 25: 919-929. Link Goto Top
  10. Gregory-Evans,K., Kelsell,R.E., Gregory-Evans,C.Y., Downes,S.M., Fitzke,F.W., Holder,G.E., Simunovic,M., Mollon,J.D., Taylor,R., Hunt,D.M., Bird,A.C., and Moore,A.T. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 2000; Ophthalmology. 107: 55-61.
    Link Goto Top
  11. Hanein,S., Perrault,I., Olsen,P., Lopponen,T., Hietala,M., Gerber,S., Jeanpierre,M., Barbet,F., Ducroq,D., Hakiki,S., Munnich,A., Rozet,J.M., and Kaplan,J. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin. 2002; Hum.Mutat. 20: 322-323.
    Link Goto Top
  12. Ito,S., Nakamura,M., Nuno,Y., Ohnishi,Y., Nishida,T., and Miyake,Y. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. 2004; Invest.Ophthalmol.Vis.Sci. 45: 1480-1485. Link Goto Top
  13. Jiang,L., Katz,B.J., Yang,Z., Zhao,Y., Faulkner,N., Hu,J., Baird,J., Baehr,W., Creel,D.J., and Zhang,K. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 2005; Mol.Vis. 11:143-51.: 143-151. Link Goto Top
  14. Kelsell,R.E., Evans,K., Gregory,C.Y., Moore,A.T., Bird,A.C., and Hunt,D.M. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 1997; Hum.Mol.Genet. 6: 597-600. Link Goto Top
  15. Kelsell,R.E., Gregory-Evans,K., Payne,A.M., Perrault,I., Kaplan,J., Yang,R.B., Garbers,D.L., Bird,A.C., Moore,A.T., and Hunt,D.M. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 1998; Hum.Mol.Genet. 7: 1179-1184.
    Link Goto Top
  16. Koenekoop,R., Ramamurthy,V., Pina,A.L., Loyer,M., Dharmaraj,S., Elihilali,H., Maumenee,I., and Hurley,J. Biochemical Consequences Of RetGC-1 Mutations Found In Children With Leber Congenital Amaurosis. 2000; Invest.Ophthalm.Vis.Sci. S200 Goto Top
  17. Koenekoop,R.K., Fishman,G.A., Iannaccone,A., Ezzeldin,H., Ciccarelli,M.L., Baldi,A., Sunness,J.S., Lotery,A.J., Jablonski,M.M., Pittler,S.J., and Maumenee,I. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. 2002; Arch.Ophthalmol. 120: 1325-1330.
    Link Goto Top
  18. Lotery,A.J., Namperumalsamy,P., Jacobson,S.G., Weleber,R.G., Fishman,G.A., Musarella,M.A., Hoyt,C.S., Heon,E., Levin,A., Jan,J., Lam,B., Carr,R.E., Franklin,A., Radha,S., Andorf,J.L., Sheffield,V.C., and Stone,E.M. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. 2000; Arch.Ophthalmol. 118: 538-543.
    Link Goto Top
  19. Loyer,M., Pina,A.L., El Hilalil,E., Vallelado,A., Lee,Y., Zhu,D., Maumenee,I., and Koenekoop,R. Novel Mutations In The Retinal Guanylyl Cyclase Gene In New Populations Of Patients With Lebers's Congenital Amaurosis. 1998; Invest.Ophthalmol.Vis.Sci. 39: S295 Goto Top
  20. Michaelides,M., Wilkie,S.E., Jenkins,S., Holder,G.E., Hunt,D.M., Moore,A.T., and Webster,A.R. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 2005; Ophthalmology. 112: 1442-1447. Link Goto Top
  21. Nishiguchi,K.M., Berson,E.L., and Dryja,T.P. Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. 2004; Mol.Vis. 10:62-4.: 62-64. Link Goto Top
  22. Payne,A.M., Downes,S.M., Bessant,D.A., Bird,A.C., and Bhattacharya,S.S. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 1998; Am.J.Hum.Genet. 62: 192-195.
    Link Goto Top
  23. Payne,A.M., Morris,A.G., Downes,S.M., Johnson,S., Bird,A.C., Moore,A.T., Bhattacharya,S.S., and Hunt,D.M. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. 2001; J.Med.Genet. 38: 611-614.
    Link Goto Top
  24. Perrault,I., Hanein,S., Gerber,S., Lebail,B., Vlajnik,P., Barbet,F., Ducroq,D., Dufier,J.L., Munnich,A., Kaplan,J., and Rozet,J.M. A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype. 2005; Hum.Mutat. 25: 222 Link Goto Top
  25. Perrault,I., Rozet,J.M., Calvas,P., Gerber,S., Camuzat,A., Dollfus,H., Chatelin,S., Souied,E., Ghazi,I., Leowski,C., Bonnemaison,M., Le Paslier,D., Frezal,J., Dufier,J.L., Pittler,S., Munnich,A., and Kaplan,J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 1996; Nat.Genet. 14: 461-464.
    Link Goto Top
  26. Perrault,I., Rozet,J.M., Gerber,S., Ghazi,I., Ducroq,D., Souied,E., Leowski,C., Bonnemaison,M., Dufier,J.L., Munnich,A., and Kaplan,J. Spectrum of retGC1 mutations in Leber's congenital amaurosis. 2000; Eur.J.Hum.Genet. 8: 578-582. Link Goto Top
  27. Perrault,I., Rozet,J.M., Gerber,S., Kelsell,R.E., Souied,E., Cabot,A., Hunt,D.M., Munnich,A., and Kaplan,J. A retGC-1 mutation in autosomal dominant cone-rod dystrophy. 1998; Am.J.Hum.Genet. 63: 651-654.
    Link Goto Top
  28. Rozet,J.M., Perrault,I., Gerber,S., Ducroq,D., Souied,E., Munnich,A., and Kaplan,J. Functional Analyses Of RetGC1 Missense Mutations Identified In Leber's Congenital Amaurosis. 2000; Invest.Ophthalmol.Vis.Sci. S533 Goto Top
  29. Silva,E., Dharmaraj,S., Li,Y.Y., Pina,A.L., Carter,R.C., Loyer,M., Traboulsi,E., Theodossiadis,G., Koenekoop,R., Sundin,O., and Maumenee,I. A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. 2004; Ophthalmic Genet. 25: 205-217. Link Goto Top
  30. Sokal,I., Dupps,W.J., Grassi,M.A., Brown,J., Jr., Affatigato,L.M., Roychowdhury,N., Yang,L., Filipek,S., Palczewski,K., Stone,E.M., and Baehr,W. A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD). 2005; Invest.Ophthalmol.Vis.Sci. 46: 1124-1132. Link Goto Top
  31. Stockton,D.W., Lewis,R.A., Abboud,E.B., Al Rajhi,A., and Lupski,J.R. Genetic Heterogeneity Of Leber Congenital Amaurosis In The Saudi Arabian Population. 1999; Invest.Ophthalmol.Vis.Sci. 40: S471 Goto Top
  32. Tucker,C.L., Ramamurthy,V., Pina,A.L., Loyer,M., Dharmaraj,S., Li,Y., Maumenee,I.H., Hurley,J.B., and Koenekoop,R.K. Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects. 2004; Mol.Vis. 10:297-303.: 297-303. Link Goto Top
  33. Udar,N., Yelchits,S., Chalukya,M., Yellore,V., Nusinowitz,S., Silva-Garcia,R., Vrabec,T., Hussles,M., I, Donoso,L., and Small,K.W. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 2003; Hum.Mutat. 21: 170-171.
    Link Goto Top
  34. Van Ghelue,M., Eriksen,H.L., Ponjavic,V., Fagerheim,T., Andreasson,S., Forsman-Semb,K., Sandgren,O., Holmgren,G., and Tranebjaerg,L. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family. 2000; Ophthalm.Genet. 21: 197-209.
    Link Goto Top
  35. Visvanathan,R., Wilkie,S.E., Warren,M.J., Hunt,D.M., and Hurley,J.B. Role Of Dimerization Domain In Activation Of Human Retinal Guanylyl Cyclase-1 (RetGC-1) And Dominant Cone-Rod Dystrophy (CORD). 2000; Invest.Ophthalmol.Vis.Sci. S533 Goto Top
  36. Wilkie,A.O., Oldridge,M., Tang,Z., and Maxson,R.E., Jr. Craniosynostosis and related limb anomalies. 2001; Novartis.Found.Symp. 232:122-33; discussion 133-43.: 122-133.
    Link Goto Top
  37. Wilkie,S.E., Newbold,R.J., Deery,E., Walker,C.E., Stinton,I., Ramamurthy,V., Hurley,J.B., Bhattacharya,S.S., Warren,M.J., and Hunt,D.M. Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. 2000; Hum.Mol.Genet. 9: 3065-3073.
    Link Goto Top
  38. Woodcock,S.C., Raux,E.C., Evans,A., Dalvin,S.T., Payne,A.M., Downes,S.M., Bird,A.C., Bhattacharya,S.S., Hunt,D.M., and Warren,M.J. Characterization Of The Y99C Mutant Of A Guanylate Cyclase Activator Protein 1 (GCAP1). 1998; Invest.Ophthalmol.Vis.Sci. 39: S951 Goto Top
  39. Yzer,S., Leroy,B.P., De Baere,E., de Ravel,T.J., Zonneveld,M.N., Voesenek,K., Kellner,U., Ciriano,J.P., de Faber,J.T., Rohrschneider,K., Roepman,R., den Hollander,A.I., Cruysberg,J.R., Meire,F., Casteels,I., Moll-Ramirez,N.G., Allikmets,R., van den Born,L.I., and Cremers,F.P. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 2006; Invest Ophthalmol.Vis.Sci. 47: 1167-1176. Goto Top

Return to Retina International‘s
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor
Return to
Database Page
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz