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).
Keywords
This is a preview of subscription content, log in via an institution.
References
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Zahid, S. et al. (2018). GUCY2D . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_37
Download citation
DOI: https://doi.org/10.1007/978-3-319-10867-4_37
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-10866-7
Online ISBN: 978-3-319-10867-4
eBook Packages: MedicineMedicine (R0)