title: New mutations in the ATM gene and clinical data of 25 AT patients.
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.
authors.affiliation: Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany. ilja.demuth@charite.de
authors.forename: Ilja
authors.initials: I
authors.lastname: Demuth
authors.forename: Véronique
authors.initials: V
authors.lastname: Dutrannoy
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Petja S
authors.initials: PS
authors.lastname: Dimova
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: Veneta
authors.initials: V
authors.lastname: Bojinova
authors.forename: Hanna
authors.initials: H
authors.lastname: Gregorek
authors.forename: Luitgard M
authors.initials: LM
authors.lastname: Graul-Neumann
authors.forename: Arpad
authors.initials: A
authors.lastname: von Moers
authors.forename: Ilka
authors.initials: I
authors.lastname: Schulze
authors.forename: Marion
authors.initials: M
authors.lastname: Nicke
authors.forename: Elcin
authors.initials: E
authors.lastname: Bora
authors.forename: Tufan
authors.initials: T
authors.lastname: Cankaya
authors.forename: Éva
authors.initials: É
authors.lastname: Oláh
authors.forename: Csongor
authors.initials: C
authors.lastname: Kiss
authors.forename: Beáta
authors.initials: B
authors.lastname: Bessenyei
authors.forename: Katalin
authors.initials: K
authors.lastname: Szakszon
authors.forename: Ursula
authors.initials: U
authors.lastname: Gruber-Sedlmayr
authors.forename: Peter Michael
authors.initials: PM
authors.lastname: Kroisel
authors.forename: Sigrun
authors.initials: S
authors.lastname: Sodia
authors.forename: Timm O
authors.initials: TO
authors.lastname: Goecke
authors.forename: Thilo
authors.initials: T
authors.lastname: Dörk
authors.forename: Martin
authors.initials: M
authors.lastname: Digweed
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
authors.forename: Joaquim
authors.initials: J
authors.lastname: de Sá
authors.forename: Charles Marques
authors.initials: CM
authors.lastname: Lourenco
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
mesh_terms: D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000378:metabolism; D012326:RNA Splicing; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases