ArticleJournal of genetics2017
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.
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 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Review
- The diverse roles of Hox proteins in the regulation of the cell cycle and their therapeutic value in cancer treatment.Cancer metastasis reviews · 2026Review
- Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.Molecular medicine reports · 2023Article
- The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease.Cell cycle (Georgetown, Tex.) · 2020Article
- A novel mutation of HOXA11 in a patient with septate uterus.Orphanet journal of rare diseases · 2017Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter. This is the first report of the molecular basis for HFGS caused by missense mutations of HOXA13.
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