Whole‑exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis

Vetrivel, Umashankar (2025) Whole‑exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis. Whole‑exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis, 26 (1) (29). pp. 1-12.

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Abstract

Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group where the robust advancement of next-generation sequencing technologies has facilitated genotype-assisted diagnosis. Leber congenital amaurosis (LCA) is a severe form of inherited retinal dystrophy that causes congenital blindness or near-blindness with a global prevalence of 3 per 100,000 live births.It is characterized by a loss of vision at birth or within the first few years of life with overlapping phenotypes to many syndromic and non-syndromic IRDs. With India’s rich genetic heterogeneity, WES is a valuable tool for uncovering novel gene mutations linked to LCA. This genetic diversity expands our understanding of the disease’s spectrum in the Indian population

Affiliation:	ICMR-National Institute for Research in Tubercuosis
Item Type:	Article
URI:	http://eprints.nirt.res.in/id/eprint/2086

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