ArticleJournal of genetics2017
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
Article in Journal of genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 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
- A Novel Variant in the Cyto-Tail ofMolecular syndromology · 2024Article
- Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.European journal of human genetics : EJHG · 2023Article
- Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.Frontiers in genetics · 2023Article
- Review
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.Molecular genetics & genomic medicine · 2019Article
- Article
- Novel deleterious mutation inPakistan journal of medical sciencesArticle
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized. In family A, the affected members showed an additional feature of profound deafness. The whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. This study reports first case of variants in the genes causing EvC syndrome and profound deafness in the same family.
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