Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine PerspectiveReport as inadecuate




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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.



Author: Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang

Source: http://plos.srce.hr/



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