A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Patrick R BlackburnMonique WilliamsMargot A CousinNicole J BoczekGeoffrey J BeekGwen A LomberkRaul A UrrutiaDusica Babovic-VuksanovicEric W Klee

Published in: Molecular genetics & genomic medicine (2017)

Whole exome sequencing revealed a novel frameshift deletion in EHMT1 after a lengthy diagnostic odyssey in this patient. Functional testing using this patient's fibroblasts provides proof-of-concept for the analysis of variants of uncertain significance that are predicted to impact EHMT1 enzymatic activity.

Keyphrases

case report
gene expression
hydrogen peroxide