Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

doi:10.1093/brain/awv010

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Article

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Brain : a journal of neurology - 1 Apr 2015

Baets Jonathan, Duan Xiaohui, Wu Yanhong, Smith Gordon, Seeley William W, Mademan Inès, McGrath Nicole M, Beadell Noah C, Khoury Julie, Botuyan Maria-Victoria, Mer Georges, Worrell Gregory A, Hojo Kaori, DeLeon Jessica, Laura Matilde, Liu Yo-Tsen, Senderek Jan, Weis Joachim, Van den Bergh Peter, Merrill Shana L, Reilly Mary M, Houlden Henry, Grossman Murray, Scherer Steven S, De Jonghe Peter, Dyck Peter J, Klein Christopher J

Abstract excerpt

We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five novel mutations of DNMT1 were discovered; p.C353F, p.T481P,...

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Identifiers

PMID: 25678562
DOI: 10.1093/brain/awv010
PMCID: PMC5014076

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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