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GUCY2D

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Retinal Dystrophy Gene Atlas

Abstract

GUCY2D encodes guanylyl cyclase 1, which is an enzyme with unknown function expressed in rod and cone photoreceptors. Mutations in GUCY2D are associated with autosomal recessive Leber congenital amaurosis (LCA), autosomal recessive cone-rod dystrophy (CORD), and autosomal dominant cone dystrophy (COD).

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References

  1. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23(4):306–17.

    Article  PubMed  CAS  Google Scholar 

  2. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, et al. Clinical and molecular genetics of Leber’s congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci. 2007;48(9):4284–90.

    Article  PubMed  Google Scholar 

  3. Ugur Iseri SA, Durlu YK, Tolun A. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber’s congenital amaurosis. Eur J Hum Genet. 2010;18(10):1121–6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  4. Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, et al. Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Mol Vis. 2011;17:1103–9.

    PubMed  PubMed Central  CAS  Google Scholar 

  5. Xiao X, Guo X, Jia X, Li S, Wang P, Zhang Q. A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol Vis. 2011;17:3271–8.

    PubMed  PubMed Central  CAS  Google Scholar 

  6. Zhao X, Ren Y, Zhang X, Chen C, Dong B, Li Y. A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. Mol Vis. 2013;19:1039–46.

    PubMed  PubMed Central  CAS  Google Scholar 

  7. Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. Arch Ophthalmol. 2008;126(3):397–403.

    Article  PubMed  CAS  Google Scholar 

  8. Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, et al. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. Eye (Lond). 2014;28(4):481–7.

    Article  CAS  Google Scholar 

  9. Hughes AE, Meng W, Lotery AJ, Bradley DT. A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci. 2012;53(8):4748–53.

    Article  PubMed  CAS  Google Scholar 

  10. Zobor D, Zrenner E, Wissinger B, Kohl S, Jagle H. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? Retina. 2014;34(8):1576–87.

    Article  PubMed  Google Scholar 

  11. Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. Eye. 2007;21(9):1220–5.

    Article  PubMed  CAS  Google Scholar 

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Zahid, S. et al. (2018). GUCY2D . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_37

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_37

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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