In:
Neurology and Clinical Neuroscience, Wiley, Vol. 3, No. 2 ( 2015-03), p. 74-77
Abstract:
DNMT 1 encodes DNA methyltransferase 1, which is a critical enzyme responsible for conversion of unmethylated DNA into hemimethylated DNA . To date, two phenotypes produced by DNMT 1 mutations have been reported, including hereditary sensory and autonomic neuropathy type IE , and autosomal dominant cerebellar ataxia, deafness and narcolepsy. We report a sporadic Japanese patient with dysautonomia, hearing loss, cataract, sensory disturbance and mild dementia. A novel missense mutation, c.4001C 〉 T, was identified in exon 35, which encodes the methyltransferase domain of DNMT 1 . Until now, all reported mutations of DNMT 1 were within the replication focus targeting sequence domain of DNA methyltransferase 1. This is the first report of a mutation in the methyltransferase domain of DNA methyltransferase 1. Our patient showed remarkable autonomic dysfunction along with cataract, a possible new phenotype of DNMT 1 mutations.
Type of Medium:
Online Resource
ISSN:
2049-4173
,
2049-4173
DOI:
10.1111/ncn3.2015.3.issue-2
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2706717-8
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