期刊
PLOS ONE
卷 10, 期 10, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0139738
关键词
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资金
- National Basic Research Program (973 Program) [2012CB944601, 2012CB517902, 2011CB510002]
- National Natural Science Foundation of China [81410308019, 81471156, 81271260, 30971585, 31401135]
- Hunan Funds for Distinguished Young Scientists [14JJ1008]
- Xinjiang Natural Science Foundation [201318101-4]
- Undergraduate Innovation Project of Central South University [YB13028, 201410533324]
- Fundamental Research Funds for the Central Universities of Central South University [2014zzts078]
- High-level medical personnel of Hunan province 225 Project
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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