ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Analysis of Craniofacial Microsomia and Facial Asymmetry: Approaches in Facial Feminization Surgery.Aesthetic surgery journal · 2026Article
- FOXI3 establishes the ectodermal niche in pharyngeal arches for cranial neural crest cells and their lineages.Bone research · 2026Article
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 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
- 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
- Review
- Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype-Phenotype Correlation.Global medical genetics · 2023Article
- Foxi3Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.Bioengineering (Basel, Switzerland) · 2023Article
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Authors and funding
26 authors at 14 institutions in 4 countries.
Funding
Abstract
purposeCraniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.
methodsWe performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro.
resultsWe studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3.
conclusionDamaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.
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