Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Mark J HamiltonRichard C CaswellNatalie CanhamTrevor ColeHelen V FirthNicola FouldsKetil HeimdalEmma HobsonGunnar HougeShelagh JossDhavendra KumarAnne Katrin LampeIsabelle MaystadtVictoria McKayKay MetcalfeRuth Newbury-EcobSoo-Mi ParkLeema RobertCecilie F RustadEmma WakelingAndrew O M WilkieThe Deciphering Developmental Disorders StudyStephen R F TwiggMohnish Suri

Published in: Journal of medical genetics (2017)

These patients demonstrate that heterozygous, likely dominant negative mutations affecting the protein kinase domain of the CDK13 gene result in a recognisable, syndromic form of intellectual disability, with or without congenital heart disease.

Keyphrases

intellectual disability
autism spectrum disorder
congenital heart disease
protein kinase
end stage renal disease
early onset
cell cycle
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression
genome wide
cell proliferation
copy number
patient reported