ArticlePloS one2014
OTX2 duplication is implicated in hemifacial microsomia.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 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
- Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes.Acta neuropathologica communications · 2025Article
- Splicing Defects and Cell Death CauseJournal of dental research · 2025Article
- Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum.medRxiv : the preprint server for health sciences · 2024Article
- Transcriptome analyses of murine right and left maxilla-mandibular complex.Orthodontics & craniofacial research · 2023Article
- A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.Bioengineering (Basel, Switzerland) · 2023Article
- Article
- DNA methylation biomarkers in asthma and rhinitis: Are we there yet?Clinical and translational allergy · 2022Review
- A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.Human genetics · 2021Article
- Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.Frontiers in genetics · 2021Article
- Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.Journal of pediatric genetics · 2020Review
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
- Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).Molecular genetics & genomic medicine · 2019Article
- The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.Molecular vision · 2019Article
- Genomic associations with bill length and disease reveal drift and selection across island bird populations.Evolution letters · 2018Article
- Nasal DNA methylation differentiates corticosteroid treatment response in pediatric asthma: A pilot study.PloS one · 2017Article
- Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Frontiers in physiology · 2017Review
- Haploinsufficiency ofMolecular cytogenetics · 2017Article
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indicated the absence of a pathogenic coding point mutation. A genome-wide survey of segmental variations identified a 1.3 Mb duplication of chromosome 14q22.3 in all affected individuals that was absent in more than 1000 chromosomes of ethnically matched controls. The duplication was absent in seven additional sporadic HFM cases, which is consistent with the known heterogeneity of the disorder. To find the critical gene in the duplicated region, we analyzed signatures of human craniofacial disease networks, mouse expression data, and predictions of dosage sensitivity. All of these approaches implicated OTX2 as the most likely causal gene. Moreover, OTX2 is a known oncogenic driver in medulloblastoma, a condition that was diagnosed in the proband during the course of the study. Our findings suggest a role for OTX2 dosage sensitivity in human craniofacial development and raise the possibility of a shared etiology between a subtype of hemifacial microsomia and medulloblastoma.
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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.