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ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Authors
  • Suspitsin, Evgeny1
  • Sokolenko, Anna2
  • Bizin, Ilya3
  • Tumakova, Anastasia4
  • Guseva, Marina4
  • Sokolova, Natalia5
  • Vakhlyarskaya, Svetlana6
  • Kondratenko, Irina6
  • Imyanitov, Evgeny7
  • 1 St.-Petersburg Pediatric Medical University, St.-Petersburg, Russia; N.N. Petrov Institute of Oncology, St.-Petersburg, Russia. Electronic address: [email protected]
  • 2 St.-Petersburg Pediatric Medical University, St.-Petersburg, Russia; N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
  • 3 N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
  • 4 St.-Petersburg Pediatric Medical University, St.-Petersburg, Russia.
  • 5 First City Children Hospital, St.-Petersburg, Russia.
  • 6 Russian Children Clinical Hospital, N.N. Pirogov National Research Medical University, Moscow, Russia.
  • 7 St.-Petersburg Pediatric Medical University, St.-Petersburg, Russia; N.N. Petrov Institute of Oncology, St.-Petersburg, Russia; I.I. Mechnikov North-Western Medical University, St.-Petersburg, Russia; St.-Petersburg State University, St.-Petersburg, Russia.
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Jan 01, 2020
Volume
63
Issue
1
Pages
103630–103630
Identifiers
DOI: 10.1016/j.ejmg.2019.02.003
PMID: 30772474
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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_453delTTCT, and c.1564_1565delGA). These data have to be taken into account while considering the genetic diagnosis and screening for ataxia-telangiectasia syndrome. Copyright © 2019 Elsevier Masson SAS. All rights reserved.

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