ArticleEuropean journal of human genetics : EJHG2019
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
Article in European journal of human genetics : EJHG, 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, 29 citations in OpenAlex.
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 2026Review
- Molecular and Cellular Mechanisms of Synaptogenesis and Synaptic Refinement During Cerebellar Circuit Formation.International journal of molecular sciences · 2026Review
- Possible relationship between genetic polymorphisms and the risk of exercise addiction among Turkish elite athletes: an exploratory pilot study.Scientific reports · 2026Article
- Bidirectional genetic and phenotypic links between smoking and striatal iron content involving dopaminergic and inflammatory pathways.Addiction (Abingdon, England) · 2026Article
- The expanding roles of adhesion GPCRs in neural circuit assembly.Molecules and cells · 2026Review
- Unraveling the core: hub genes bridging familial and sporadic Parkinson's disease.Journal of neurology · 2026Article
- The relationship between schizophrenia polygenic scores, blood-based proteins and psychosis diagnosis in the UK Biobank.Schizophrenia (Heidelberg, Germany) · 2026Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Genomic study of taste perception genes in African Americans reveals SNPs linked to Alzheimer's disease.Scientific reports · 2024Article
- Genomic Study of Taste Perception Genes in African Americans Reveals SNPs Linked to Alzheimer's Disease.bioRxiv : the preprint server for biology · 2024Article
- Brain-Specific Angiogenesis Inhibitor 3 Is Expressed in the Cochlea and Is Necessary for Hearing Function in Mice.International journal of molecular sciences · 2023Article
- Generation and initial characterization of mice lacking full-length BAI3 (ADGRB3) expression.Basic & clinical pharmacology & toxicology · 2023Article
- G protein-coupled receptors in neurodegenerative diseases and psychiatric disorders.Signal transduction and targeted therapy · 2023Review
- Adhesion G protein-coupled receptors: structure, signaling, physiology, and pathophysiology.Physiological reviews · 2022Review
- Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.Intractable & rare diseases research · 2022Article
- Genotype by environment interactions for chronic wasting disease in farmed US white-tailed deer.G3 (Bethesda, Md.) · 2022Article
- Synapse Formation and Function Across Species: Ancient Roles for CCP, CUB, and TSP-1 Structural Domains.Frontiers in neuroscience · 2022Review
- Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene.Translational psychiatry · 2021Article
- Gene Module Analysis Reveals Cell-Type Specificity and Potential Target Genes in Autism's Pathogenesis.Biomedicines · 2021Article
- Primary Thyroid NUT Carcinoma With High PD-L1 Expression and Novel MassiveFrontiers in oncology · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years, chromosomal microarray analysis has permitted the discovery of rearrangements underlying several neurodevelopmental disorders and still represents the first diagnostic test for unexplained neurodevelopmental disabilities. Here we report a family of consanguineous parents showing psychiatric disorders and their two sons both affected by intellectual disability, ataxia, and behavioral disorder. SNP/CGH array analysis in this family demonstrated in both siblings a biallelic duplication inherited from the heterozygous parents, disrupting the ADGRB3 gene. ADGRB3, also known as BAI3, belongs to the subfamily of adhesion G protein-coupled receptors (adhesion GPCRs) that regulate many aspects of the central nervous system, including axon guidance, myelination, and synapse formation. Single nucleotide polymorphisms and copy number variants involving ADGRB3 have recently been associated with psychiatric disorders. These findings further support this association and also suggest that biallelic variants affecting the function of the ADGRB3 gene may also cause cognitive impairments and ataxia.
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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.