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

Recent update from: 11.04.2006

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 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. 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.
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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.
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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.
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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. 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. 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.
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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.
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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. 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. 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. 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.
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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.
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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.
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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. 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. 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.
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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.
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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 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.
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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. 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.
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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. 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. 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. 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.
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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.
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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.
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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.
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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
    

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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