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Article

Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E.

Epigenetics - 1 Aug 2014

Sun Zhifu, Wu Yanhong, Ordog Tamas, Baheti Saurabh, Nie Jinfu, Duan Xiaohui, Hojo Kaori, Kocher Jean-Pierre, Dyck Peter J, Klein Christopher J

Abstract excerpt

DNA methyltransferase 1 (DNMT1) is essential for DNA methylation, gene regulation and chromatin stability. We previously discovered DNMT1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (HSAN1E; OMIM 614116). HSAN1E is the first adult-onset neurodegenerative disorder caused by a defect in a methyltransferase gene. HSAN1E patients appear clinically normal until...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA (Cytosine-5-)-Methyltransferase 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 25033457
DOI: 10.4161/epi.29676
PMCID: PMC4164503

Genes

DNMT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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