ArticleNature communications2023
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Vascular Mechanisms in the Etiology of Hemifacial Microsomia: A Systematic Review of Epidemiological, Clinical, and Genetic Evidence.Birth defects research · 2026Pooled it
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.Human genetics · 2026Article
- Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population.Human molecular genetics · 2026Article
- FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages.Bone research · 2026Article
- Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks.American journal of human genetics · 2025Article
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Nature communications · 2025Article
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis.Nature communications · 2025Article
- CommonGenome research · 2025Article
- Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.European journal of human genetics : EJHG · 2025Article
- Pathogenic variants in SHROOM3 associated with hemifacial microsomia.Journal of human genetics · 2025Article
- Article
- Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.European journal of human genetics : EJHG · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.Journal of clinical immunology · 2024Article
- Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.Molecular genetics & genomic medicine · 2024Article
- Genetics and Epigenetics in the Genesis and Development of Microtia.The Journal of craniofacial surgery · 2024Article
Corrections and comments
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Authors and funding
54 authors at 20 institutions in 10 countries.
Funding
Abstract
Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry and other malformations. The inheritance pattern is controversial, and the molecular etiology of this syndrome is largely unknown. A total of 670 patients belonging to unrelated pedigrees with European and Chinese ancestry with CFM, are investigated. We identify 18 likely pathogenic variants in 21 probands (3.1%) in FOXI3. Biochemical experiments on transcriptional activity and subcellular localization of the likely pathogenic FOXI3 variants, and knock-in mouse studies strongly support the involvement of FOXI3 in CFM. Our findings indicate autosomal dominant inheritance with reduced penetrance, and/or autosomal recessive inheritance. The phenotypic expression of the FOXI3 variants is variable. The penetrance of the likely pathogenic variants in the seemingly dominant form is reduced, since a considerable number of such variants in affected individuals were inherited from non-affected parents. Here we provide suggestive evidence that common variation in the FOXI3 allele in trans with the pathogenic variant could modify the phenotypic severity and accounts for the incomplete penetrance.
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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.