Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective |
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| Authors: | Zhao Chen Wei Ye Zhe Long Dongxue Ding Huirong Peng Xuan Hou Rong Qiu Kun Xia Beisha Tang Hong Jiang |
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| Institution: | 1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.; 2. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China.; 3. State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.; 4. School of Information Science and Engineering, Central South University, Changsha, Hunan, P.R. China.; Cornell University, UNITED STATES, |
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| Abstract: | Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and immunodeficiency due to mutations in the ATM gene. We performed targeted next-generation sequencing (NGS) on three unrelated patients and identified five disease-causing variants in three probands, including two pairs of heterozygous variants (FAT–1:c.4396C>T/p.R1466X, c.1608-2A>G; FAT–2:c.4412_4413insT/p.L1472Ffs*19, c.8824C>T/p.Q2942X) and one pair of homozygous variants (FAT–3: c.8110T>G/p.C2704G, Hom). With regard to precision medicine for rare genetic diseases, targeted NGS currently enables the rapid and cost-effective identification of causative mutations and is an updated molecular diagnostic tool that merits further optimization. This high-throughput data-based strategy would propel the development of precision diagnostic methods and establish a foundation for precision medicine. |
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