Ontology highlight
ABSTRACT:
SUBMITTER: Heon E
PROVIDER: S-EPMC1288278 | biostudies-literature | 1999 Nov
REPOSITORIES: biostudies-literature
Héon E E Priston M M Schorderet D F DF Billingsley G D GD Girard P O PO Lubsen N N Munier F L FL
American journal of human genetics 19991101 5
Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome 2q33-35, and mutational analysis of the CRYG-genes cluster identified the aculeiform-cataract mutation in exon 2 of gamma-crystallin D (CRYGD). This mutation occurred in a highly conserved amino acid and could be associated with an impaired folding of CRYGD. During ou ...[more]