Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

Reza MaroofianStephanie EfthymiouMohnish SuriFatima RahmanMaha Saad ZakiShazia MaqboolNajwa AnwaVictor L Ruiz-PérezShira Yanovsky-DaganOrly ElpelegSniya SudhakarKshitij MankadTamar HarelHenry Houlden

Published in: Journal of medical genetics (2022)

In this study, we consolidate the causality of loss of MAPKAPK5 function and further delineate the molecular and phenotypic spectrum associated with this new ultra-rare neurodevelopmental syndrome.

Keyphrases

intellectual disability
high resolution
emergency department
autism spectrum disorder
congenital heart disease
gene expression