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Article

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

Neurology - 26 Feb 2013

Klein Christopher J, Bird Tom, Ertekin-Taner Nilufer, Lincoln Sarah, Hjorth Robert, Wu Yanhong, Kwok John, Mer Georges, Dyck Peter J, Nicholson Garth A

Abstract excerpt

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....

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Identifiers

PMID: 23365052
DOI: 10.1212/WNL.0b013e318284076d
PMCID: PMC3598458

Genes

DNMT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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