Journal
ANNALS OF NEUROLOGY
Volume 55, Issue 6, Pages 891-895Publisher
WILEY-LISS
DOI: 10.1002/ana.20139
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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.
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