Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Mathilde NizonVincent LaugelKevin M FlaniganMatthew PastoreMegan A WaldropJill A RosenfeldRonit MaromRui XiaoAmanda GerardOlivier PichonCédric Le CaignecMarion GérardKlaus DieterichMegan Truitt ChoKirsty McWalter Susan M HiattMichelle L ThompsonStéphane BézieauAlexandrea WadleyKlaas J WierengaJean-Marc EglyBertrand Isidor

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Overall data suggest that MED12L haploinsufficiency is responsible for intellectual disability and transcriptional defect. Our findings confirm that the integrity of this kinase module is a critical factor for neurological development.

Keyphrases

intellectual disability
protein kinase
autism spectrum disorder
transcription factor
gene expression
tyrosine kinase
electronic health record
copy number
heat shock
machine learning
dna methylation
deep learning
artificial intelligence
soft tissue