ArticleAmerican journal of human genetics2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 3 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 3 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Shared neuroimaging and molecular profiles in type 2 diabetes mellitus and major depressive disorder: an integrative analysis of genetic, transcriptomic, and neuroimaging data.Translational psychiatry · 2025Pooled it
- Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.Journal of the Association for Research in Otolaryngology : JARO · 2023Pooled it
- Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.Nature medicine · 2023Pooled it
- Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders.CNS neuroscience & therapeutics · 2026Article
- De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.International journal of molecular sciences · 2026Article
- Genome-wide association analyses identify distinct genetic architectures for early-onset and late-onset depression.Nature genetics · 2025Article
- Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Nature communications · 2025Article
- Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.American journal of human genetics · 2025Article
- Genome-wide association study of adolescent-onset depression.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide analysis identifies novel shared loci between depression and white matter microstructure.Molecular psychiatry · 2025Article
- Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene.Developmental neurobiology · 2025Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Chromatin remodeling protein BPTF mediates chromatin accessibility at gene promoters in planarian stem cells.BMC genomics · 2025Article
- RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Nature communications · 2025Article
- Exome sequencing in Nigerian children with early-onset epilepsy syndromes.Epilepsia open · 2025Article
- Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.JCI insight · 2025Article
- Genetic analyses point to alterations in immune-related pathways underpinning the association between psychiatric disorders and COVID-19.Molecular psychiatry · 2025Article
- Classic Kaposi sarcoma: Diagnostics, treatment modalities, and genetic implications - A review of the literature.Acta oncologica (Stockholm, Sweden) · 2024Review
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
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Authors and funding
39 authors at 17 institutions in 6 countries.
Funding
Abstract
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24.2. The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). Using CRISPR-Cas9 genome editing of bptf in zebrafish to induce a loss of gene function, we observed a significant reduction in head size of F0 mutants compared to control larvae. Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and phospho-histone H3 (PH3) staining to assess apoptosis and cell proliferation, respectively, showed a significant increase in cell death in F0 mutants compared to controls. Additionally, we observed a substantial increase of the ceratohyal angle of the craniofacial skeleton in bptf F0 mutants, indicating abnormal craniofacial patterning. Taken together, our data demonstrate the pathogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the clinical spectrum of human disorders caused by ablation of chromatin remodeling complexes.
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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.