Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.

Conclusions: Two novel G22S mutations of Cx46 and Cx50 were identified, and preliminary functional analysis revealed a potential deleterious effect of these mutations due to the malfunction of connexins. Abbreviations: ADCC: autosomal dominant congenital cataract; Cx26: connexin26; Cx32: connexin32; Cx46: connexin46; Cx46WT: wild-type connexin46; Cx50: Connexin50; Cx50WT: wild-type connexin50; DAPI: 4',6-diamidino-2-phenylindole; EGFP: enhanced green fluorescent protein; FBS: fetal bovine serum; GJA-:gap junction alpha-; PCR: polymerase chain reaction; PolyPhen: polymorphism phenotyping; PSIC: position-specific independent count; RPMI: Roswell Park Memorial Institute; TM1: first transmembrane. PMID: 31618082 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research