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.

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

SAVIOZZI, Silvia;SALUTO, Alessandro;MIGONE, Nicola;DE MARCHI, Mario;BRUSCO, Alfredo;
2003-01-01

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.
2003
21
e450
e454
http://www3.interscience.wiley.com/cgi-bin/fulltext/104084448/PDFSTART
ATM; PTT; mutation detection; Ataxia Telangiectasia; Italian
Saviozzi, Silvia; Saluto, Alessandro; Piane, Maria; Prudente, Sabrina; Migone, Nicola; DE MARCHI, Mario; Brusco, Alfredo; Chessa, Luciana
File in questo prodotto:
File Dimensione Formato  
33 Six Novel ATM Mutations in Italian Patients With AT_Hum Mutat 2003.pdf

Accesso riservato

Descrizione: Paper pubblicato
Tipo di file: PDF EDITORIALE
Dimensione 32.93 kB
Formato Adobe PDF
32.93 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/29064
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 5
  • ???jsp.display-item.citation.isi??? 4
social impact