Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

ABSTRACT:

Background

Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predicted to truncate the whole ATM protein. Herein, we report on an ataxia telangiectasia child with atypical phenotype who was identified as compound heterozygous for two ATM variants involving a previously described pathogenic single nucleotide variation (SNV) and a novel copy number variation (CNV).

Case presentation

A 6-year-old boy presented with delayed development and oculomotor apraxia. Brain magnetic resonance imaging showed interval development of mild atrophy in the cerebellum. Serum alpha fetoprotein level was in normal range. Next-generation sequenc

SUBMITTER: Lee HY 

PROVIDER: S-EPMC8371864 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature