Novel Homozygous Missense Variant in Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2022 Jan 11

PMID 35008666

Authors

Abdullah Y Hassan

Sairah Yousaf

Moran R Levin

Osamah J Saeedi

Saima Riazuddin

Janet L Alexander

Zubair M Ahmed

Affiliations

Soon will be listed here.

Abstract

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in , which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive allele, and the first report in African Americans. These results validate as a bona fide gene for recessively inherited CC in humans.

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