The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

Kabuki syndrome (KS) is caused by mutations in KMT2D, which is a histone methyltransferase involved in methylation of H3K4, a histone marker associated with DNA methylation. Analysis of >450,000 CpGs in 24 KS patients with pathogenic mutations in KMT2D and 216 controls, identified 24 genomic regi...

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Bibliographic Details
Main Authors: Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic
Format: Article
Language:English
Published: Taylor & Francis Group 2017-11-01
Series:Epigenetics
Subjects:
kabuki syndrome
kmt2d
kdm6a
dna methylation
variant classification
Online Access:http://dx.doi.org/10.1080/15592294.2017.1381807

Internet

http://dx.doi.org/10.1080/15592294.2017.1381807

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