Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

ABSTRACT: Developmental delay and intellectual disability (DD and ID) are heterogeneous phenotypes that arise in many rare monogenic disorders. Because of this rarity, developing cohorts with enough individuals to robustly identify disease-associated genes is challenging. Social-media platforms that facilitate data sharing among sequencing labs can help to address this challenge. Through one such tool, GeneMatcher, we identified nine DD- and/or ID-affected probands with a rare, heterozygous variant in the gene encoding the serine/threonine-protein kinase BRSK2. All probands have a speech delay, and most present with intellectual disability, motor delay, behavioral issues, and autism. Six of the nine variants are predicted to result in loss of function, and computational modeling predicts that the re

SUBMITTER: Hiatt SM 

PROVIDER: S-EPMC6451696 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature