Journal
PLOS ONE
Volume 10, Issue 10, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0139738
Keywords
-
Categories
Funding
- 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
Ask authors/readers for more resources
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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available