title: Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
abstract: Mutations in the ATM gene are responsible for the autosomal recessive syndrome Ataxia Telangiectasia (AT). In a group of 26 classical AT Italian patients studied by protein truncation test (PTT), we identified six new mutations, never reported so far. Mutations -spread over the entire ATM coding sequence with not clear "hot-spot"- are four frameshifts (2192_2193insA, 3110delC, 7150delA, 8368delA), one splice site alteration (8850G>T, causing exon 63 skipping) and one nonsense change (6913C>T, Q2305X). The identification of ATM gene mutations is important for understanding the molecular basis of the disease, and is essential for diagnosis and genetic counseling.
authors.affiliation: Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, and A.O. San Luigi, Torino, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Saviozzi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Saluto
authors.forename: Maria
authors.initials: M
authors.lastname: Piane
authors.forename: Sabrina
authors.initials: S
authors.lastname: Prudente
authors.forename: Nicola
authors.initials: N
authors.lastname: Migone
authors.forename: Mario
authors.initials: M
authors.lastname: DeMarchi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.forename: Luciana
authors.initials: L
authors.lastname: Chessa
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D002460:Cell Line; D018389:Codon, Nonsense / Q000235:genetics; D004268:DNA-Binding Proteins; D016368:Frameshift Mutation; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007558:Italy; D008214:Lymphocytes / Q000737:chemistry / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D012042:Registries; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D022821:RNA Splice Sites; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases