NDLI: New mutations in the ATM gene and clinical data of 25 AT patients

Content Provider	Springer Nature Link
Author	Demuth, Ilja Dutrany, Véronique Marques, Wilson Neitzel, Heidemarie Schindler, Detlev Dimova, Petja S. Chrzawska, Krystyna H. Bojiva, Veneta Gregorek, Hanna Graul Neumann, Luitgard M. Moers, Arpad Schulze, Ilka Nicke, Marion Bora, Elcin Cankaya, Tufan Oláh, Éva Kiss, Csongor Bessenyei, Beáta Szakszon, Katalin Gruber Sedlmayr, Ursula Kroisel, Peter Michael Sodia, Sigrun Goecke, Timm O. Dörk, Thilo Digweed, Martin Sperling, Karl Sá, Joaquim Lourenco, Charles Marques Varon, Raymonda
Copyright Year	2011
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.
Starting Page	273
Ending Page	282
Page Count	10
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	12
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-10-02
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Ataxia telangiectasia ATM Mutation screening Human Genetics Molecular Medicine Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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