title: Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.
abstract: Using a polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay, which amplifies individually all coding exons of the ATM gene deficient ataxia-telangiectasia (A-T), we have analyzed 10 patients with A-T for ATM mutations. Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5' splice site of intron 17, leading to exon skipping. However, most mutations were small deletions or insertions resulting in premature termination of the translation product. The development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.
authors.affiliation: Department of Bioscience, NOVUM, Karolinska Institute, Huddinge, Sweden.
authors.forename: I
authors.initials: I
authors.lastname: Vorechovský
authors.forename: L
authors.initials: L
authors.lastname: Luo
authors.forename: S
authors.initials: S
authors.lastname: Prudente
authors.forename: L
authors.initials: L
authors.lastname: Chessa
authors.forename: G
authors.initials: G
authors.lastname: Russo
authors.forename: M
authors.initials: M
authors.lastname: Kanariou
authors.forename: M
authors.initials: M
authors.lastname: James
authors.forename: M
authors.initials: M
authors.lastname: Negrini
authors.forename: A D
authors.initials: AD
authors.lastname: Webster
authors.forename: L
authors.initials: L
authors.lastname: Hammarström
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005091:Exons; D006801:Humans; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases