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

Silvia Saviozzi, Alessandro Saluto, Maria Piane, Sabrina Prudente, Nicola Migone, Mario DeMarchi, Alfredo Brusco, Luciana Chessa

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)450
Number of pages1
JournalHuman Mutation
Volume21
Issue number4
Publication statusPublished - Apr 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Saviozzi, S., Saluto, A., Piane, M., Prudente, S., Migone, N., DeMarchi, M., Brusco, A., & Chessa, L. (2003). Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. Human Mutation, 21(4), 450.