CRYGS gene

Overview

Gene (OMIM No.)	CRYGS (#123730)
Function of gene/protein	Protein: crystallin gamma S Expressed in the lens Lower level of expression in the brain 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 20, multiple types (#116100)
Inheritance	Autosomal dominant
Ocular features	Congenital cataracts (progressive polymorphic cortical, progressive ‘opalescent’)
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 Systemic assessment with a paediatrician and other relevant specialists
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

Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008;14:1157‐1170
Sun H, Ma Z, Li Y, et al. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet. 2005;42(9):706‐710
Vanita V, Singh JR, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis. 2009;15:476‐481
Zarina S, Abbasi A, Zaidi ZH. Primary structure of beta s-crystallin from human lens. Biochem J. 1992;287 ( Pt 2)(Pt 2):375‐381

Updated on November 30, 2020