ArticleEuropean journal of human genetics : EJHG2009
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.European journal of human genetics : EJHG · 2011Pooled it
- A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.Orphanet journal of rare diseases · 2024Article
- Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature.Journal of pediatric genetics · 2024Article
- Review
- 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
- Deletion of a Long-RangeGenetics · 2018Article
- A Novel Heterozygous Intragenic Sequence Variant inMolecular syndromology · 2017Article
- Split-Hand Malformation in a 4-Year-Old Child.Case reports in pediatrics · 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
- Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Orphanet journal of rare diseases · 2014Article
- Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.Obstetrics & gynecology science · 2014Article
- Split-hand/foot malformation - molecular cause and implications in genetic counseling.Journal of applied genetics · 2014Review
- Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.Molecular syndromology · 2013Article
- Functional characterization of tissue-specific enhancers in the DLX5/6 locus.Human molecular genetics · 2012Article
- Coding exons function as tissue-specific enhancers of nearby genes.Genome research · 2012Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal analysis, array comparative genomic hybridization and fluorescence in situ hybridization. Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. These observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome. We review previously reported studies that support this hypothetical mechanism.
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