Abstract
Ataxia‑telangiectasia (A‑T) syndrome is a rare autosomal recessive disorder mainly caused by mutations in the A‑T mutated (ATM) gene. However, the genomic abnormalities and their consequences associated with the pathogenesis of A‑T syndrome remain to be fully elucidated. In the present study, a whole‑exome sequencing analysis of a family with A‑T syndrome was performed, revealing a novel homozygous deletion mutation [namely, NM_000051.3:c.50_72+7del,p.Asp18_Lys24delins(23)] in ATM in three affected siblings, which was inherited from their carrier parents who exhibited a normal phenotype in this pedigree. The identified mutation spans the exon 2 and intron 2 regions of the ATM gene, causing a splicing aberration that resulted in a 30‑bp deletion in exon 2 and intron 2, as well as a 71‑bp insertion in intron 2 in the splicing process, which was confirmed by reverse transcription‑polymerase chain reaction and sequencing analysis. The change in the three‑dimensional structure of the protein caused by the mutation in ATM may affect the functions associated with telomere length maintenance and DNA damage repair. Taken together, the present study reported a novel homozygous deletion mutation in the ATM gene resulting in A‑T syndrome in a Chinese pedigree and expanded on the spectrum of known causative mutations of the ATM gene.