CRYGC gene

Overview

Gene (OMIM No.)	CRYGC (#123680)
Function of gene/protein	Protein: crystallin gamma C Major structural component of the lens Highly organized, compact structures that contribute to the refractive index of the lens Interacts with other crystallins to maintain lens structure and transparency
Clinical phenotype (OMIM phenotype no.)	Cataract 2, multiple types (#604307)
Inheritance	Autosomal dominant
Ocular features	Congenital cataracts (variable zonular pulverulent or Coppock-like) Microcornea Nystagmus
Systemic features	No extraocular features have been reported
Key investigations	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

Heterozygous p.Trp157Ter mutation is associated with microcornea. ^[6,7]

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Fu L, Liang JJ. Alteration of protein-protein interactions of congenital cataract crystallin mutants. Invest Ophthalmol Vis Sci. 2003;44(3):1155‐1159
Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI. Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology. 1994;101(5):866‐871
Ren Z, Li A, Shastry BS, et al. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet. 2000;106(5):531‐537
Gonzalez-Huerta LM, Messina-Baas OM, Cuevas-Covarrubias SA. A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity. Mol Vis. 2007;13:1333‐1338
Guo Y, Su D, Li Q, et al. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. Mol Vis. 2012;18:1874‐1880
Zhang L, Fu S, Ou Y, Zhao T, Su Y, Liu P. A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis. 2009;15:276‐282
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

Updated on November 30, 2020

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