Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.

ABSTRACT:

Background

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T patients manifest considerable variability in clinical and immunological features, suggesting the presence of genetic modifying factors. A striking heterogeneity has been observed in class switching recombination (CSR) in A-T patients which cannot be explained by the severity of ATM mutations.

Methods

To investigate the cause of variable CSR in A-T patients, we applied whole-exome sequencing (WES) in 20 A-T patients consisting of 10 cases with CSR defect (CSR-D) and 10 controls with normal CSR (CSR-N). Comparative analyses on modifier variants found in the exomes of these two groups of patients were performed.

Results

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SUBMITTER: Amirifar P 

PROVIDER: S-EPMC8821084 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature