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Adult‐onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity
Author(s) -
Sutton Ian J.,
Last James I. K.,
Ritchie Susan J.,
Harrington Hugh J.,
Byrd Philip J.,
Taylor A. Malcolm R.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20139
Subject(s) - ataxia telangiectasia , point mutation , mutation , genetics , biology , gene , allele , phenotype , ataxia , splice , splice site mutation , microbiology and biotechnology , cancer research , exon , alternative splicing , neuroscience , dna , dna damage
Ataxia telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder that arises because of mutations in the ATM gene. The 5762ins137 A→G point mutation activates a cryptic splice donor site resulting in a 137bp intronic insert being aberrantly spliced into the ATM transcript. However, normal ATM transcript also is produced from this affected allele, albeit at significantly reduced levels. An exceptionally mild A‐T phenotype occurs as a result of homozygosity for the 5762ins137 mutation because of relative preservation of ATM protein expression/kinase activity. Ann Neurol 2004;55:891–895