ArticleJournal of medical genetics2016
Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- The etiology of idiopathic congenital talipes equinovarus: a systematic review.Journal of orthopaedic surgery and research · 2018Pooled it
- Unraveling the Clinical and Genetic Landscape of Talipes Equinovarus (Clubfoot).Molecular syndromology · 2026Review
- Identification of HOXC Gene Family as Prognostic and Immune-Related Biomarkers in Breast Cancer Through mRNA Transcriptional Profile and Experimental Validation.Biochemical genetics · 2025Article
- Heterozygous deletion ofJournal of medical genetics · 2024Article
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies.Italian journal of pediatrics · 2023Review
- Whole exome sequencing improves genetic diagnosis of fetal clubfoot.Human genetics · 2023Article
- HOXC11 drives lung adenocarcinoma progression through transcriptional regulation of SPHK1.Cell death & disease · 2023Article
- Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review.Orthopedic research and reviews · 2023Review
- Diagnostic yield of exome sequencing in congenital vertical talus.European journal of medical genetics · 2022Article
- A novel hypoxia-driven gene signature that can predict the prognosis and drug resistance of gliomas.Frontiers in genetics · 2022Article
- Rare andJournal of medical genetics · 2020Article
- Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- The genetics of isolated and syndromic clubfoot.Journal of children's orthopaedics · 2019Article
- Paralogous HOX13 Genes in Human Cancers.Cancers · 2019Review
- Functional polymorphisms in LncRNA HOTAIR contribute to susceptibility of pancreatic cancer.Cancer cell international · 2019Article
- Long non-coding RNA00364 represses hepatocellular carcinoma cell proliferation via modulating p-STAT3-IFIT2 signaling axis.Oncotarget · 2017Article
- Why location matters - site-specific factors in rheumatic diseases.Nature reviews. Rheumatology · 2017Review
- The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Clinical orthopaedics and related research · 2017Article
- Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.Molecular cytogenetics · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundDeletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans.
objectiveTo report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia.
methodsProbands (N=253) with clubfoot or vertical talus were screened for point mutations and copy number variants using multiplexed direct genomic selection, a pooled BAC targeted capture approach. SNP genotyping included 1178 probands with clubfoot or vertical talus and 1775 controls.
resultsThe microdeletions share a minimal non-coding region overlap upstream of HOXC13, with variable phenotypes depending upon HOXC13, HOXC12 or the HOTAIR lncRNA inclusion. SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). Defects in limb morphogenesis include shortened and overlapping toes, as well as peroneus muscle hypoplasia. Finally, HOXC and HOXD gene expression is reduced in fibroblasts from a patient with a 5' HOXC deletion, consistent with previous studies demonstrating that dosage of lncRNAs alters expression of HOXD genes in trans.
conclusionsBecause HOXD10 has been implicated in the aetiology of congenital vertical talus, variation in its expression may contribute to the lower limb phenotypes occurring with 5' HOXC microdeletions. Identification of 5' HOXC microdeletions highlights the importance of transcriptional regulators in the aetiology of severe lower limb malformations and will improve their diagnosis and management.
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