neurogenetics

, Volume 12, Issue 4, pp 273–282 | Cite as

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

  • Ilja Demuth
  • Véronique Dutrannoy
  • Wilson MarquesJr
  • 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-Sedlmayr
  • Peter Michael Kroisel
  • Sigrun Sodia
  • Timm O. Goecke
  • Thilo Dörk
  • Martin Digweed
  • Karl Sperling
  • Joaquim de Sá
  • Charles Marques Lourenco
  • Raymonda Varon
ORIGINAL ARTICLE

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.

Keywords

Ataxia telangiectasia ATM Mutation screening 

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Ilja Demuth
    • 1
    • 2
  • Véronique Dutrannoy
    • 1
  • Wilson MarquesJr
    • 3
  • Heidemarie Neitzel
    • 1
  • Detlev Schindler
    • 4
  • Petja S. Dimova
    • 5
  • Krystyna H. Chrzanowska
    • 6
  • Veneta Bojinova
    • 5
  • Hanna Gregorek
    • 7
  • Luitgard M. Graul-Neumann
    • 1
  • Arpad von Moers
    • 8
  • Ilka Schulze
    • 9
  • Marion Nicke
    • 10
  • Elcin Bora
    • 11
  • Tufan Cankaya
    • 11
  • Éva Oláh
    • 12
  • Csongor Kiss
    • 12
  • Beáta Bessenyei
    • 12
  • Katalin Szakszon
    • 12
  • Ursula Gruber-Sedlmayr
    • 13
  • Peter Michael Kroisel
    • 14
  • Sigrun Sodia
    • 14
  • Timm O. Goecke
    • 15
  • Thilo Dörk
    • 10
  • Martin Digweed
    • 1
  • Karl Sperling
    • 1
  • Joaquim de Sá
    • 16
  • Charles Marques Lourenco
    • 3
  • Raymonda Varon
    • 1
  1. 1.Institut für Medizinische Genetik und HumangenetikCharité—Universitätsmedizin Berlin, Campus Virchow KlinikumBerlinGermany
  2. 2.The Berlin Aging Study II; Research Group on GeriatricsCharité—Universitätsmedizin BerlinBerlinGermany
  3. 3.Medical Genetics Division, Neurogenetics ClinicsUniversity of São PauloSão PauloBrazil
  4. 4.Department of Human GeneticsUniversity of WürzburgWürzburgGermany
  5. 5.Clinic of Child NeurologySt. Naum University Hospital of Neurology and PsychiatrySofiaBulgaria
  6. 6.Department of Medical GeneticsThe Children’s Memorial Health InstituteWarsawPoland
  7. 7.Department of Microbiology and ImmunologyThe Children’s Memorial Health InstituteWarsawPoland
  8. 8.DRK Kliniken Berlin Westend, Children’s HospitalBerlinGermany
  9. 9.Centrum für Chronische Immunodefizienz; Zentrum für Kinderheilkunde und JugendmedizinUniversitätsklinikum FreiburgFreiburgGermany
  10. 10.Department of Obstetrics and GynaecologyHannover Medical SchoolHannoverGermany
  11. 11.Department of Medical GeneticsDokuz Eylul UniversityIzmirTurkey
  12. 12.Medical and Health Science Center, Institute of PaediatricsUniversity of DebrecenDebrecenHungary
  13. 13.Children’s Hospital of the University of GrazGrazAustria
  14. 14.Institute of Human GeneticsMedical University of GrazGrazAustria
  15. 15.Institute of Human GeneticsHeinrich Heine UniversityDüsseldorfGermany
  16. 16.Servico de Genética MédicaHospital Pediátrico de CoimbraCoimbraPortugal

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