ArticleMolecular syndromology2017
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Article in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants.QJM : monthly journal of the Association of Physicians · 2026Observational
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.PloS one · 2023Article
- Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.Genes · 2022Article
- Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.Molecular genetics & genomic medicine · 2022Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype. NGS with a customized skeletal dysplasia panel containing over 370 genes and subsequent bioinformatics analysis disclosed 2 homozygous mutations in
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