Journal article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Abstract
BackgroundDNA methylation is an essential epigenetic mark, controlled by DNA methyltransferase (DNMT) proteins, which regulates chromatin structure and gene expression throughout the genome. In this study, we describe a family with adult-onset autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) caused by mutations in the maintenance methyltransferase DNMT1 and assess the DNA methylation profile of these …
Authors
Kernohan KD; Cigana Schenkel L; Huang L; Smith A; Pare G; Ainsworth P; Care4Rare Canada Consortium; Boycott KM; Warman-Chardon J; Sadikovic B
Journal
Clinical Epigenetics, Vol. 8, No. 1,
Publisher
Springer Nature
Publication Date
December 2016
DOI
10.1186/s13148-016-0254-x
ISSN
1868-7075