A de novo loss-of-function variant in the BRSK2 gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo in-frame deletion variant in this gene was observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). Hiatt et al., 2019 identified nine individuals with rare heterozygous variants in the BRSK2 gene that presented with a neurodevelopmental disorder characterized by speech delay, intellectual disability, motor delay, autism, and behavioral abnormalities. Two additional de novo loss-of-function variants in this gene were identified in ASD probands from the SPARK cohort (Feliciano et al., 2019); in the same report, a meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified BRSK2 as an ASD candidate gene with a q-value 0.1. A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified BRSK2 as a gene reaching exome-wide significance (P < 2.5E-06). Hiatt et al., 2019 identified nine individuals with rare heterozygous variants in the BRSK2 gene that presented with a neurodevelopmental disorder characterized by speech delay, intellectual disability, motor delay, autism, and behavioral abnormalities.
Molecular Function
Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
