CRYGD gene

Overview

Gene (OMIM No.)	CRYGD (#123690)
Function of gene/protein	Protein: crystallin gamma D Lens-specific protein with structural and functional components Highly organized, compact structures that contribute to the refractive index of the lens Interacts with other crystallins to maintain lens transparency
Clinical phenotype (OMIM phenotype no.)	Cataract 4, multiple types (#115700)
Inheritance	Autosomal dominant
Ocular features	Congenital cataracts (progressive aculeiform or cerulean) Microcornea
Systemic features	No extraocular features have been reported
Key investigations	Measurement of corneal diameter B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities Electrophysiology TORCH screen Assessment with a paediatrician if suspicious of systemic involvement
Molecular diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract
Therapies under research	None at present
Further information	OMIM

Hansen L, Yao W, Eiberg H, et al. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007;48(9):3937‐3944
Héon E, Priston M, Schorderet DF, et al. The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999;65(5):1261‐1267
Kmoch S, Brynda J, Asfaw B, et al. Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. Hum Mol Genet. 2000;9(12):1779‐1786
Nandrot E, Slingsby C, Basak A, et al. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. J Med Genet. 2003;40(4):262‐267
Pande A, Pande J, Asherie N, et al. Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci U S A. 2000;97(5):1993‐1998
Rogaev EI, Rogaeva EA, Korovaitseva GI, et al. Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet. 1996;5(5):699‐703
Stephan DA, Gillanders E, Vanderveen D, et al. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A. 1999;96(3):1008‐1012
Hilal L, Nandrot E, Belmekki M, et al. Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. Ophthalmic Genet. 2002;23(4):199-208

Updated on November 30, 2020

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