A Homozygous Nonsense Mutation Of Atm Gene In A Chinese Family With Five Ataxia Telangiectasia Children: Lesson For Prenatal Diagnosis

Ataxia-telangiectasia (AT) is a hereditary neurodegenerative disease. We presented a Chinese family with healthy non-consanguineous parents and all-five children presenting with unsteady gait. Genetic analysis of two living siblings showed an ATM homozygous nonsense mutation (c.6100C>T) that has not been reported in Chinese patients, while both parents were compound heterozygous. Limited expertise and lack of diagnosis may lead to the neglect of disease and bring a great tragedy to the family. Prenatal diagnosis may be desirable to identify fetuses at risk of AT when the nature and location of ATM mutation in a family have been identified.