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Article

Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.

Journal of the peripheral nervous system : JPNS - 1 Mar 2013

Yuan Junhui, Higuchi Yujiro, Nagado Tatsui, Nozuma Satoshi, Nakamura Tomonori, Matsuura Eiji, Hashiguchi Akihiro, Sakiyama Yusuke, Yoshimura Akiko, Takashima Hiroshi

Abstract excerpt

DNMT1, encoding DNA methyltransferase 1 (Dnmt1), is a critical enzyme which is mainly responsible for conversion of unmethylated DNA into hemimethylated DNA. To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in...

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Identifiers

PMID: 23521649
DOI: 10.1111/jns5.12012

Genes

DNMT1

Variants

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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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