ArticleEuropean journal of human genetics : EJHG2017
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 45 citations in OpenAlex.
- Partial Trisomy 20qter on a Derivative Chromosome 22 in a Northern Italian Genetic Isolate with Oculo-Auriculo-Vertebral Spectrum-Related Features.Balkan journal of medical genetics : BJMG · 2026Article
- 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
- Article
- Genetic correlation and causation of craniofacial microsomia with 33 diseases in Asian populations: insights from large-scale genome-wide cross-trait analysis.Scientific reports · 2025Article
- Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.European journal of human genetics : EJHG · 2025Article
- Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.Molecular genetics & genomic medicine · 2024Article
- Breaking the silence: A qualitative exploration of parental perspectives of children with Goldenhar Syndrome.Heliyon · 2024Article
- Genetics and Epigenetics in the Genesis and Development of Microtia.The Journal of craniofacial surgery · 2024Article
- Orthodontic and Facial Characteristics of Craniofacial Syndromic Children with Obstructive Sleep Apnea.Diagnostics (Basel, Switzerland) · 2023Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- GATA3 is essential for separating patterning domains during facial morphogenesis.Development (Cambridge, England) · 2021Article
- A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.Human genetics · 2021Article
- Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).International journal of molecular sciences · 2021Article
- OCULO-AURICULO-VERTEBRAL SPECTRUM ASSOCIATED WITH ABERRANT SUBCLAVIAN ARTERY IN AN INFANT WITH RECURRENT RESPIRATORY DISTRESS.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2021Article
- Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.Frontiers in genetics · 2021Article
- MYT1 role in the microtia-craniofacial microsomia spectrum.Molecular genetics & genomic medicine · 2020Article
- Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity. Recently, MYT1, encoding the myelin transcription factor 1, was reported as the first gene involved in OAVS, within the retinoic acid (RA) pathway. Fifty-seven OAVS patients originating from Brazil were screened for MYT1 variants. A novel de novo missense variant affecting function, c.323C>T (p.(Ser108Leu)), was identified in MYT1, in a patient presenting with a severe form of OAVS. Functional studies showed that MYT1 overexpression downregulated all RA receptors genes (RARA, RARB, RARG), involved in RA-mediated transcription, whereas no effect was observed on CYP26A1 expression, the major enzyme involved in RA degradation, Moreover, MYT1 variants impacted significantly the expression of these genes, further supporting their pathogenicity. In conclusion, a third variant affecting function in MYT1 was identified as a cause of OAVS. Furthermore, we confirmed MYT1 connection to RA signaling pathway.
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