ArticleMolecular autism2019
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Article in Molecular autism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 48 citations in OpenAlex.
- Article
- Genetic alterations in SUPT6H are associated with neurodevelopmental disorders.Biochimica et biophysica acta. Molecular basis of disease · 2026Article
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- Transcriptional regulation of disease-relevant microglial activation programs.bioRxiv : the preprint server for biology · 2025Article
- Dissecting Gene Regulatory Networks Governing Human Cortical Cell Fate.bioRxiv : the preprint server for biology · 2025Article
- Molecular Consequences of a Missense PHF21A Variant, c.1285G > A, Associated With Syndromic Neurodevelopmental Disorder.Cellular and molecular neurobiology · 2025Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Asynchronous microexon splicing ofbioRxiv : the preprint server for biology · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.Journal of neurology · 2023Article
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.Journal of molecular neuroscience : MN · 2023Article
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.Molecular psychiatry · 2023Article
- Article
- Moderate-to-vigorous intensity physical activity levels of children with intellectual disability during physical education classes.Frontiers in public health · 2023Article
- Article
- The epigenetic reader PHF21B modulates murine social memory and synaptic plasticity-related genes.JCI insight · 2022Article
- Novel Pathogenic Variant (c.1171A>T) inMolecular syndromology · 2022Article
- Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.Orphanet journal of rare diseases · 2022Review
- Disease Modeling of Rare Neurological Disorders in Zebrafish.International journal of molecular sciences · 2022Review
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Authors and funding
28 authors at 16 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Methods: Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of Results: We have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of Conclusion: Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that
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