Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Denise HornElisa Fernández-NúñezRicardo Gomez-CarmonaAna Rivera-BarahonaJulian NevadoSarina SchwartzmannNadja EhmkePablo LapunzinaGhada A OtaifySamia TemtamyMona AglanFelix BoschannVictor L Ruiz-Perez

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our data indicate that loss-of-function variants in MAPKAPK5 result in a severe developmental disorder and reveal a major role of this gene in human brain, heart, and limb development.

Keyphrases

copy number
genome wide
heart failure
dna methylation
left ventricular
electronic health record
intellectual disability
early onset
big data
single cell
atrial fibrillation
gene expression
genome wide identification
soft tissue
autism spectrum disorder
data analysis
drug induced