Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel ATM Gene Mutations.

ABSTRACT:

Objective

The clinical manifestations of ataxia-telangiectasia (AT) are very complex and are easily misdiagnosed and missed. The purpose of this study was to explore the clinical characteristics and genetic features of five pediatric patients with AT from three pedigrees in china.

Methods

Retrospectively collected and analyzed the clinical data and genetic testing results of five AT patients diagnosed by the Whole-exome sequencing followed by Sanger sequencing. The five patients with AT were from three pedigrees, including two female patients (case 1 and case 2) in pedigree I, one male patient (case 3) in pedigree II, and two male patients (case 4 and case 5) in pedigree III. According to the United Kingdom Association for Clinical Genomic Science Best Practice Guidelines fo

SUBMITTER: Huang P 

PROVIDER: S-EPMC9108171 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature