Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Abstract Background Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disab...

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Bibliographic Details
Main Authors: Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Clinical Epigenetics
Subjects:
KDM5C
DNA methylation
Variants of unknown significance
X-linked intellectual disability
Claes-Jensen
Online Access:http://link.springer.com/article/10.1186/s13148-018-0453-8

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http://link.springer.com/article/10.1186/s13148-018-0453-8

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