Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians
✍ Scribed by Irene Piaceri,Silvia Bagnoli,Andrea Tedde,Sandro Sorbi…
- Book ID
- 126347701
- Publisher
- Springer Milan
- Year
- 2012
- Tongue
- English
- Weight
- 153 KB
- Volume
- 34
- Category
- Article
- ISSN
- 1590-1874
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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 seq
In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to lossof-function alleles. Nonsense, splice-site variants, small insertions or deletions (frameshifts) and missense are the most commonly found mutations. Large genomic deletions (LGDs) are rare (~1%) but can lead t