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. Copyright 2003 Wiley-Liss, Inc.

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia / Silvia, Saviozzi; Alessandro, Saluto; Piane, Maria; Sabrina, Prudente; Nicola, Migone; M., De Marchi; Alfredo, Brusco; Chessa, Luciana. - In: HUMAN MUTATION. - ISSN 1098-1004. - 21:4(2003), pp. 450-450. [10.1002/humu.9129]

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

PIANE, Maria;CHESSA, Luciana
2003

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. Copyright 2003 Wiley-Liss, Inc.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11573/256082
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