ArticleAmerican journal of human genetics2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- BRSK2 accumulation mediated by TRIM28 accelerates hepatocellular carcinoma progression via activating the PI3K/AKT/mTOR signaling pathway.Molecular and cellular biochemistry · 2026Article
- Further characterization of the BRSK2-associated neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Role and Impact of theInternational journal of molecular sciences · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- Genomic landscape of autism spectrum disorder in Brazil.Genetics and molecular biology · 2026Article
- Genetic variation reveals the therapeutic potential of BRSK2 in idiopathic pulmonary fibrosis.BMC medicine · 2025Article
- Identifying prothrombin and bone sialoprotein as potential drug targets for idiopathic pulmonary fibrosis.BMC pulmonary medicine · 2024Article
- Novel mutation leading to splice donor loss in a conserved site ofJournal of medical genetics · 2024Article
- Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.NPJ genomic medicine · 2024Article
- Genome-wide detection of positive and balancing signatures of selection shared by four domesticated rainbow trout populations (Oncorhynchus mykiss).Genetics, selection, evolution : GSE · 2024Article
- BRSK2 in pancreatic β cells promotes hyperinsulinemia-coupled insulin resistance and its genetic variants are associated with human type 2 diabetes.Journal of molecular cell biology · 2023Article
- Dynamic Regulation ofInternational journal of molecular sciences · 2023Article
- Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.Research square · 2023Article
- Three generation families: Analysis of de novo variants in autism.European journal of human genetics : EJHG · 2023Article
- Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy.Frontiers in psychiatry · 2023Article
- Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2022Article
- Deleterious Variation in BR Serine/Threonine Kinase 2 Classified a Subtype of Autism.Frontiers in molecular neuroscience · 2022Article
- Genome-wide differentially methylated genes associated with posttraumatic stress disorder and longitudinal change in methylation in rape survivors.Translational psychiatry · 2021Article
- Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its "Epidemic Rates".Journal of personalized medicine · 2021Article
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.NPJ genomic medicine · 2019Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 5 countries.
Funding
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 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
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.