期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 63, 期 1, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2019.02.003
关键词
Ataxia-telangiectasia; Mutation; Founder effect
资金
- Russian Science Foundation [18-15-00256]
- Russian Science Foundation [18-15-00256] Funding Source: Russian Science Foundation
Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT. Biallelic mutations in the ATM gene were identified in all studied subjects; these lesions included one large gene rearrangement, which was reliably detected by NGS and validated by multiplex ligation-dependent probe amplification (MLPA). There was a pronounced founder effect, as 17 of 30 (57%) pathogenic ATM alleles in the patients of Slavic origin were represented by three recurrent mutations (c.5932G > T, c.450_453delITCT, and c.1564_1565delGA). These data have to be taken into account while considering the genetic diagnosis and screening for ataxia-telangiectasia syndrome.
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