[ATM gene mutations in Chinese patients with ataxia telangiectasia]

To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.

A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

Totally three novel ATM gene mutations were identified in two Chinese AT patients.