Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Open accessAbstract
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 remaining three missense variants are damaging to BRSK2 structure and function. All nine variants are absent from large variant databases, and BRSK2 is, in general, relatively intolerant to protein-altering variation among humans. In all six probands for whom parents were available, the mutations were found to have arisen de novo. Five of these de novo variants were from cohorts with at least 400 sequenced probands; collectively, the cohorts span 3,429 probands, and the observed rate of de novo variation in these cohorts is significantly higher than the estimated background-mutation rate (p = 2.46 × 10-6). We also find that exome sequencing provides lower coverage and appears less sensitive to rare variation in BRSK2 than does genome sequencing; this fact most likely reduces BRSK2's visibility in many clinical and research sequencing efforts. Altogether, our results implicate damaging variation in BRSK2 as a source of neurodevelopmental disease.
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Recent studies have reported additional individuals with ASD and/or NDD with de novo damaging variants in BRSK2, PAX5, NR4A2, RALGAPB, and DPP6.
“Recent studies have reported additional individuals with ASD and/or NDD with de novo damaging variants in these genes including BRSK2,27 PAX5,4,28 NR4A2,29,30 RALGAPB,7,31,32 and DPP6.5,33,34”
From Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) · cites this paper as [27]
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- Authors
- Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., Mignot, C., Nava, C., Depienne, C., Kalsner, L., Rauch, A., Joset, P., Bachmann-Gagescu, R., Wentzensen, I. M., McWalter, K., & Cooper, G. M.
- Affiliations
- HudsonAlpha Institute for Biotechnology (US)
- Michigan State University (US)
- University of Alabama at Birmingham (US)
- Radboud University Medical Center (NL)
- Assistance Publique – Hôpitaux de Paris (FR)
- Sorbonne Université (FR)
- Connecticut Children's Medical Center (US)
- University of Zurich (CH)
- Corresponding author
- Cooper, Gregory M.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2019-04
- Volume
- 104
- Issue
- 4
- Pages
- 701-708
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC6451696
- OpenAlex
- W2922519375
- Cited by
- 29
- References
- 37
- Citations by year
- 2026: 6 · 2025: 3 · 2024: 5 · 2023: 6 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 1
- FWCI
- 1.35
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by-nc-nd)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- HAL (submittedVersion)
- Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- Office of the Director (K01ES025435)
- GIS-Institut des Maladies Rares
- National Human Genome Research Institute (UM1HG007301)
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- BRSK2, neurodevelopmental disorders, intellectual disability, developmental delay, de novo mutations, loss-of-function mutations, serine/threonine kinase, autism spectrum disorder, speech delay, protein structure prediction, disease gene identification
- MeSH terms
- Exome Sequencing, Adolescent, Autistic Disorder, Child, Child Behavior Disorders, Developmental Disabilities, Child, Preschool, Female, Heterozygote, Humans, Male, Intellectual Disability, Mutation, Phenotype, Genetic Variation, Protein Serine-Threonine Kinases, Gene Deletion, Motor Skills Disorders, Genetic Predisposition to Disease, Young Adult, Exome, Neurodevelopmental Disorders
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