ArticleNature communications2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 70 citations in OpenAlex.
- Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- FAM50A promotes esophageal squamous cell carcinoma progression via splicing-dependent oncogenic circSDK1- and DUSP22-mediated MAPK/FAK activation.Cell discovery · 2026Article
- XAP5 CIRCADIAN TIMEKEEPER coordinates circadian rhythms and anthocyanin biosynthesis independently of splicing.Plant physiology · 2026Article
- A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.Translational vision science & technology · 2026Article
- Conserved eukaryotic factors XCT and COP1 work together to control circadian clock function and reproductive timing in plants.Npj biological timing and sleep · 2026Article
- CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.Science advances · 2025Article
- Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.American journal of human genetics · 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
- Exploration of signature-related FAM genes and correlation between FAM50A expression and the pathogenesis and prognosis of hepatocellular carcinoma.Translational cancer research · 2025Article
- Pathogenic variants inmedRxiv : the preprint server for health sciences · 2025Article
- Article
- Hemizygous SMARCA1 variants cause X-linked intellectual disability.Journal of human genetics · 2025Article
- FAM50A drives breast cancer brain metastasis through interaction with C9ORF78 to enhance ʟ-asparagine production.Science advances · 2025Article
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Control of ciliary transcriptional programs during spermatogenesis by antagonistic transcription factors.eLife · 2025Article
- RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.Nature communications · 2025Article
- Article
- FAM50A as a novel prognostic marker modulates the proliferation of colorectal cancer cells via CylinA2/CDK2 pathway.PloS one · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
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Authors and funding
36 authors at 15 institutions in 5 countries.
Funding
Abstract
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomorphic. RNA sequencing analysis from fam50a KO zebrafish show dysregulation of the transcriptome, with augmented spliceosome mRNAs and depletion of transcripts involved in neurodevelopment. Zebrafish RNA-seq datasets show a preponderance of 3' alternative splicing events in fam50a KO, suggesting a role in the spliceosome C complex. These data are supported with transcriptomic signatures from cell lines derived from affected individuals and FAM50A protein-protein interaction data. In sum, Armfield XLID syndrome is a spliceosomopathy associated with aberrant mRNA processing during development.
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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.