caa a22 4500 44536470X CHVBK 20180317142926.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s10048-011-0299-0 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0299-0 New mutations in the ATM gene and clinical data of 25 AT patients [Elektronische Daten] [Ilja Demuth, Véronique Dutrannoy, Wilson Marques Jr, Heidemarie Neitzel, Detlev Schindler, Petja Dimova, Krystyna Chrzanowska, Veneta Bojinova, Hanna Gregorek, Luitgard Graul-Neumann, Arpad von Moers, Ilka Schulze, Marion Nicke, Elcin Bora, Tufan Cankaya, Éva Oláh, Csongor Kiss, Beáta Bessenyei, Katalin Szakszon, Ursula Gruber-Sedlmayr, Peter Kroisel, Sigrun Sodia, Timm Goecke, Thilo Dörk, Martin Digweed, Karl Sperling, Joaquim de Sá, Charles Lourenco, Raymonda Varon] 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. Springer-Verlag, 2011 Ataxia telangiectasia nationallicence ATM nationallicence Mutation screening nationallicence Demuth Ilja Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut Dutrannoy Véronique Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut Marques Jr Wilson Medical Genetics Division, Neurogenetics Clinics, University of São Paulo, São Paulo, Brazil aut Neitzel Heidemarie Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut Schindler Detlev Department of Human Genetics, University of Würzburg, Biozentrum am Hubland, 97074, Würzburg, Germany aut Dimova Petja Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1, Dr. Lyuben Roussev Street, 1113, Sofia, Bulgaria aut Chrzanowska Krystyna Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland aut Bojinova Veneta Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1, Dr. Lyuben Roussev Street, 1113, Sofia, Bulgaria aut Gregorek Hanna Department of Microbiology and Immunology, The Children's Memorial Health Institute, Warsaw, Poland aut Graul-Neumann Luitgard Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut von Moers Arpad DRK Kliniken Berlin Westend, Children's Hospital, Berlin, Germany aut Schulze Ilka Centrum für Chronische Immunodefizienz; Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany aut Nicke Marion Department of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-St. 1, 30625, Hannover, Germany aut Bora Elcin Department of Medical Genetics, Dokuz Eylul University, 35330, Izmir, Turkey aut Cankaya Tufan Department of Medical Genetics, Dokuz Eylul University, 35330, Izmir, Turkey aut Oláh Éva Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut Kiss Csongor Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut Bessenyei Beáta Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut Szakszon Katalin Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut Gruber-Sedlmayr Ursula Children's Hospital of the University of Graz, Auenbruggerplatz 30, A 8036, Graz, Austria aut Kroisel Peter Institute of Human Genetics, Medical University of Graz, Harrachg. 21/8, 8010, Graz, Austria aut Sodia Sigrun Institute of Human Genetics, Medical University of Graz, Harrachg. 21/8, 8010, Graz, Austria aut Goecke Timm Institute of Human Genetics, Heinrich Heine University, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Dörk Thilo Department of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-St. 1, 30625, Hannover, Germany aut Digweed Martin Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut Sperling Karl Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut de Sá Joaquim Servico de Genética Médica, Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000-076, Coimbra, Portugal aut Lourenco Charles Medical Genetics Division, Neurogenetics Clinics, University of São Paulo, São Paulo, Brazil aut Varon Raymonda Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut neurogenetics Springer-Verlag 12/4(2011-11-01), 273-282 1364-6745 12:4<273 2011 12 10048 https://doi.org/10.1007/s10048-011-0299-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0299-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Demuth Ilja Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- Dutrannoy Véronique Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- Marques Jr Wilson Medical Genetics Division, Neurogenetics Clinics, University of São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Neitzel Heidemarie Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- Schindler Detlev Department of Human Genetics, University of Würzburg, Biozentrum am Hubland, 97074, Würzburg, Germany aut NATIONALLICENCE 700 1- Dimova Petja Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1, Dr. Lyuben Roussev Street, 1113, Sofia, Bulgaria aut NATIONALLICENCE 700 1- Chrzanowska Krystyna Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland aut NATIONALLICENCE 700 1- Bojinova Veneta Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1, Dr. Lyuben Roussev Street, 1113, Sofia, Bulgaria aut NATIONALLICENCE 700 1- Gregorek Hanna Department of Microbiology and Immunology, The Children's Memorial Health Institute, Warsaw, Poland aut NATIONALLICENCE 700 1- Graul-Neumann Luitgard Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- von Moers Arpad DRK Kliniken Berlin Westend, Children's Hospital, Berlin, Germany aut NATIONALLICENCE 700 1- Schulze Ilka Centrum für Chronische Immunodefizienz; Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany aut NATIONALLICENCE 700 1- Nicke Marion Department of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-St. 1, 30625, Hannover, Germany aut NATIONALLICENCE 700 1- Bora Elcin Department of Medical Genetics, Dokuz Eylul University, 35330, Izmir, Turkey aut NATIONALLICENCE 700 1- Cankaya Tufan Department of Medical Genetics, Dokuz Eylul University, 35330, Izmir, Turkey aut NATIONALLICENCE 700 1- Oláh Éva Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut NATIONALLICENCE 700 1- Kiss Csongor Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut NATIONALLICENCE 700 1- Bessenyei Beáta Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut NATIONALLICENCE 700 1- Szakszon Katalin Medical and Health Science Center, Institute of Paediatrics, University of Debrecen, Nagyerdei krt. 98, 4012, Debrecen, Hungary aut NATIONALLICENCE 700 1- Gruber-Sedlmayr Ursula Children's Hospital of the University of Graz, Auenbruggerplatz 30, A 8036, Graz, Austria aut NATIONALLICENCE 700 1- Kroisel Peter Institute of Human Genetics, Medical University of Graz, Harrachg. 21/8, 8010, Graz, Austria aut NATIONALLICENCE 700 1- Sodia Sigrun Institute of Human Genetics, Medical University of Graz, Harrachg. 21/8, 8010, Graz, Austria aut NATIONALLICENCE 700 1- Goecke Timm Institute of Human Genetics, Heinrich Heine University, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Dörk Thilo Department of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-St. 1, 30625, Hannover, Germany aut NATIONALLICENCE 700 1- Digweed Martin Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- Sperling Karl Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 700 1- de Sá Joaquim Servico de Genética Médica, Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000-076, Coimbra, Portugal aut NATIONALLICENCE 700 1- Lourenco Charles Medical Genetics Division, Neurogenetics Clinics, University of São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Varon Raymonda Institut für Medizinische Genetik und Humangenetik, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/4(2011-11-01), 273-282 1364-6745 12:4<273 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer