ArticleEuropean journal of human genetics : EJHG2011
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 39 citations in OpenAlex.
- Anatomical Variations in Bilateral Hand Oligodactyly: A Case Analysis of Cleft Hand.Diagnostics (Basel, Switzerland) · 2026Article
- The Gollop-Wolfgang Complex: A Case Report.Pediatric reports · 2025Article
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- Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach.Diagnostics (Basel, Switzerland) · 2023Article
- Sequence Variants in theMolecular syndromology · 2023Article
- Article
- SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.Orphanet journal of rare diseases · 2022Article
- A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.Molecular cytogenetics · 2021Article
- Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.BMC medical genetics · 2019Review
- Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2).BMC medical genomics · 2018Article
- 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.Orphanet journal of rare diseases · 2018Article
- Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.Molecular medicine reports · 2018Article
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Frontiers in genetics · 2018Review
- Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Journal of human genetics · 2017Article
- A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.Journal of pediatric genetics · 2017Article
- Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Human molecular genetics · 2015Article
- Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.American journal of human genetics · 2014Article
- Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.Orphanet journal of rare diseases · 2014Article
- 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
- The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.American journal of medical genetics. Part A · 2013Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identified, the molecular basis and pathogenesis of most SHFLD cases are unknown. In this study we describe three unrelated kindreds, in which SHFLD segregated with distinct but overlapping duplications in 17p13.3, a region previously linked to SHFLD. In a large three-generation family, the disorder was found to segregate with a 254 kb microduplication; a second microduplication of 527 kb was identified in an affected female and her unaffected mother, and a 430 kb microduplication versus microtriplication was identified in three affected members of a multi-generational family. These findings, along with previously published data, suggest that one locus responsible for this form of SHFLD is located within a 173 kb overlapping critical region, and that the copy gains are incompletely penetrant.
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