New mutations in the ATM gene and clinical data of 25 at patients

Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Petja S. Dimova, Krystyna H. Chrzanowska, Veneta Bojinova, Hanna Gregorek, Luitgard M. Graul-Neumann, Arpad Von Moers, Ilka Schulze, Marion Nicke, Elcin Bora, Tufan Cankaya, Éva Oláh, Csongor Kiss, Beáta Bessenyei, Katalin Szakszon, Ursula Gruber-SedlmayrPeter Michael Kroisel, Sigrun Sodia, Timm O. Goecke, Thilo Dörk, Martin Digweed, Karl Sperling, Joaquim De Sá, Charles Marques Lourenco, Raymonda Varon

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T>C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients.

Original languageEnglish
Pages (from-to)273-282
Number of pages10
JournalNeurogenetics
Volume12
Issue number4
DOIs
Publication statusPublished - Nov 1 2011

Keywords

  • ATM
  • Ataxia telangiectasia
  • Mutation screening

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

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    Demuth, I., Dutrannoy, V., Marques, W., Neitzel, H., Schindler, D., Dimova, P. S., Chrzanowska, K. H., Bojinova, V., Gregorek, H., Graul-Neumann, L. M., Von Moers, A., Schulze, I., Nicke, M., Bora, E., Cankaya, T., Oláh, É., Kiss, C., Bessenyei, B., Szakszon, K., ... Varon, R. (2011). New mutations in the ATM gene and clinical data of 25 at patients. Neurogenetics, 12(4), 273-282. https://doi.org/10.1007/s10048-011-0299-0