DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

@article{Klein2013DNMT1MH,
  title={DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.},
  author={Christopher Jon Klein and Tom D Bird and Nil{\"u}fer Ertekin-Taner and Sarah Lincoln and Robert Hjorth and Yanhong Wu and John Kwok and Georges Mer and Peter J. Dyck and Garth A. Nicholson},
  journal={Neurology},
  year={2013},
  volume={80 9},
  pages={824-8}
}
BACKGROUND Mutations in DNA methyltransferase 1 (DNMT1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E); and 2) cerebellar ataxia, deafness, and narcolepsy. Both syndromes have mutations in targeting sequence (TS) domain (exons 20-21), which is important in mediating DNA substrate binding to the DNMT1 catalytic domain. Frontal lobe hypometabolism has been documented in an HSAN1E family, but memory loss… CONTINUE READING
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