Genetic Landscape of Dystonia in Asian Indians.

ABSTRACT:

Background

Genomic variations associated with dystonia in Asian Indians remain largely unknown.

Objectives

To identify genomic alterations associated with dystonia in the Asian Indian population using next generation sequencing approaches.

Methods

From September 2018 to December 2023, we enrolled 745 individuals including probands with dystonia and family members, in the Indian Movement Disorder Registry and Biobank. Clinical and demographic data were captured on a REDCap platform. We performed whole exome sequencing (WES) on DNA specimens obtained from 267 individuals with isolated, combined or complex dystonia. Variants were classified according to joint guidelines of American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AM

SUBMITTER: Saini A 

PROVIDER: S-EPMC12070184 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature