The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

ABSTRACT:

Background

Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives

In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods

A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing. The study used the InDelible structural variants calling pipeline and conducted molecular dynamic simulations on variants of uncertain significance (VUS) in ATP7B AlphaFold protein structures. Additionally, a high-throughput gene screening panel for WD was developed.

Results

This study examined 128 clinically diagnosed cases of WD, reve

SUBMITTER: Kumar M 

PROVIDER: S-EPMC11802660 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature