Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

  title={Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.},
  author={Ian J. Sutton and James I K Last and Susan J Ritchie and H James Harrington and Philip J. Byrd and Alexander Malcolm R. Taylor},
  journal={Annals of neurology},
  volume={55 6},
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 137 bp 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… CONTINUE READING