ArticleEuropean journal of human genetics : EJHG2014
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Complications of Limb Salvage in Concordant Bilateral Fibular Hemimelia and Tetramelic Ectrodactyly: A Case Report.Journal of orthopaedic case reports · 2026Article
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- Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.Human genetics · 2025Article
- Article
- A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.Molecular genetics & genomic medicine · 2023Article
- Review
- PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.Disease models & mechanisms · 2023Article
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.Frontiers in molecular biosciences · 2023Article
- New pathogenic variant inFrontiers in genetics · 2023Article
- P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.Bioscience reports · 2019Article
- Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).European journal of human genetics : EJHG · 2019Article
- Deletion of a Long-RangeGenetics · 2018Article
- Limb development: a paradigm of gene regulation.Nature reviews. Genetics · 2017Review
- A Novel Heterozygous Intragenic Sequence Variant inMolecular syndromology · 2017Article
- Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2016Review
- Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.PLoS genetics · 2016Article
- Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Journal of molecular biology · 2016Article
- Phenotypic subregions within the split-hand/foot malformation 1 locus.Human genetics · 2016Article
- Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Molecular syndromology · 2016Article
- DLX4 is associated with orofacial clefting and abnormal jaw development.Human molecular genetics · 2015Article
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candidate genes in the six loci known to be responsible for SHFM revealed a novel heterozygous mutation, c.558G>T (p.(Gln186His)), in distal-less homeobox 5 (DLX5). As DLX5 encodes a transcription factor capable of transactivating MYC, we also tested whether the mutation could affect DLX5 transcription acitivity. Results from luciferase reporter assay revealed that a mutation in DLX5 compromised its transcriptional activity. This is the first report of a mutation in DLX5 leading to autosomal-dominant SHFM1.
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