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.
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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
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/29064
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