ArticleMolecular genetics & genomic medicine2020
MYT1 role in the microtia-craniofacial microsomia spectrum.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 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
- Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026Article
- Pathogenic variants in SHROOM3 associated with hemifacial microsomia.Journal of human genetics · 2025Article
- Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.Bioengineering (Basel, Switzerland) · 2023Article
- Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.International journal of molecular sciences · 2022Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- An ancient founder mutation located betweenProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Haploinsufficiency of SF3B2 causes craniofacial microsomia.Nature communications · 2021Article
- A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.Human genetics · 2021Article
- MYT1 role in the microtia-craniofacial microsomia spectrum.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundCraniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in MYT1 contributing to better understand the genotype and phenotype associated with mutations in this gene. METHODS/
resultsWe conducted genetic analysis using whole-exome and -genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants. Sanger sequencing was used to confirm these mutations.
conclusionWe identified two additional individuals with CFM who carry rare variants in MYT1, further supporting the presumptive role of this gene in the CFM spectrum.
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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.