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GENATLAS PHENOTYPE

last update : 25-10-2018

Symbol	CPC
Location	3q27.3
Name	progressive polymorphic cortical cataract
Corresponding gene	CRYGS
Other symbol(s)	CTRCT20
Main clinical features	cataract progressive, beginning between 8 and15 years, located in the anterior, posterior or peripheral cortex
Genetic determination	autosomal dominant
Related entries	including also pulverulent cataracts (PMID: 24328668)
Function/system disorder	eye
Type	disease

Gene product

Name	crystallin, gamma S

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		unknown	G18V disrupting the morphology and organisation of cortical fibre cells

Remark(s)

. aberrant modifications in CRYGS structure might contribute to the lower stability and higher aggregatory potency of the mutated protein, which subsequently resulted in cataracts in the patients (PMID: 29857103))