A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

ABSTRACT:

Background

A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5' region and an uninterrupted CAG tract in the 3' tail.

Objective

Here, we assess the population distribution of the THAP11 repeat, and its contribution to neurological diseases.

Methods

We interrogated data from 54,788 individuals from Genomics England, 10,686 patients from the UCL Queen Square Institute of Neurology in-house database (UCL IoN), and 424,340 individuals from the UK Biobank.

Results

We identified expanded repeats in four individuals with learning difficulties without ataxia and in three individuals in UK Biobank, one with heredita

SUBMITTER: Clarkson C 

PROVIDER: S-EPMC11926500 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature