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: Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
• Journal: PloS one (PLoS One) Vol. 10 Issue 10 Pg. e0139738 ( 2015) ISSN: 1932-6203 [Electronic] United States
• PMID: 26439923 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• ATM protein, human
• Ataxia Telangiectasia Mutated Proteins

Topics

• Ataxia Telangiectasia (diagnosis, genetics)
• Ataxia Telangiectasia Mutated Proteins (genetics)
• Child
• China
• Female
• Genes, Recessive
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Mutation
• Precision Medicine