ArticleMolecular genetics & genomic medicine2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
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 20 papers.
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20 citing papers in PubMed, 30 citations in OpenAlex.
- Goldenhar Syndrome-Embryological, Anatomical, Etiopathogenic Mechanisms and Treatment of Obstructive Sleep Apnea.International journal of molecular sciences · 2026Review
- 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
- Ocular Manifestations and Pathological Features in Goldenhar Syndrome: A 10-Year Retrospective Study.Ophthalmology and therapy · 2025Article
- Article
- Phylogenomic analysis of the Lake Kronotskoe species flock of Dolly Varden charr reveals genetic and developmental signatures of sympatric radiation.Development (Cambridge, England) · 2024Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- Phylogenomic analysis of the Lake Kronotskoe species flock of Dolly Varden charr reveals genetic and developmental signatures of sympatric radiation.bioRxiv : the preprint server for biology · 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
- Diagnosis, treatment, and research status of rare diseases related to birth defects.Intractable & rare diseases research · 2023Review
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.Life (Basel, Switzerland) · 2022Article
- Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome.European journal of human genetics : EJHG · 2022Article
- [Genetic characteristics of microtia-associated syndromes in neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- 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
- Understanding the Pathophysiology of Congenital Vestibular Disorders: Current Challenges and Future Directions.Frontiers in neurology · 2021Review
- 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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Oculo-Auriculo-Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limited the molecular diagnosis. In this study, we describe a novel causative gene, ZYG11B.
methodsA sporadic case of OAVS was analyzed by whole exome sequencing in trio strategy. The identified candidate gene, ZYG11B, was screened in 143 patients by next generation sequencing. Overexpression and immunofluorescence of wild-type and mutated ZYG11B forms were performed in Hela cells. Moreover, morpholinos were used for transient knockdown of its homologue in zebrafish embryo.
resultsA nonsense de novo heterozygous variant in ZYG11B, (NM_024646, c.1609G>T, p.Glu537*) was identified in a single OAVS patient. This variant leads in vitro to a truncated protein whose subcellular localization is altered. Transient knockdown of the zebrafish homologue gene confirmed its role in craniofacial cartilages architecture and in notochord development. Moreover, ZYG11B expression regulates a cartilage master regulator, SOX6, and is regulated by Retinoic Acid, a known developmental toxic molecule leading to clinical features of OAVS.
conclusionBased on genetic, cellular and animal model data, we proposed ZYG11B as a novel rare causative gene for OAVS.
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