title: Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Ye
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Long
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Dongxue
authors.initials: D
authors.lastname: Ding
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Huirong
authors.initials: H
authors.lastname: Peng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Hou
authors.affiliation: School of Information Science and Engineering, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Rong
authors.initials: R
authors.lastname: Qiu
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D002648:Child; D002681:China; D005260:Female; D005808:Genes, Recessive; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D009154:Mutation; D057285:Precision Medicine
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins