ArticleAmerican journal of human genetics1998
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
Article in American journal of human genetics, 1998. 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, 98 citations in OpenAlex.
- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
- A novel Hoxd13 mutation causes synpolydactyly and promotes osteoclast differentiation by regulating pSmad5/p65/c-Fos/Rank axis.Cell death & disease · 2023Article
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG advances · 2022Article
- A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.BMC medical genetics · 2019Article
- A novel mutation of HOXA11 in a patient with septate uterus.Orphanet journal of rare diseases · 2017Article
- Occurrence of Synpolydactyly and Omphalocele in a Fetus with aJournal of pediatric genetics · 2017Article
- Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.BMC genetics · 2015Article
- Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.PloS one · 2014Article
- Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.BMC medical genetics · 2012Article
- A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.Journal of human genetics · 2011Article
- Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Molecular syndromology · 2010Article
- Article
- Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.BMC medical genetics · 2007Article
- Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.American journal of human genetics · 2007Article
- Breakpoints around the HOXD cluster result in various limb malformations.Journal of medical genetics · 2006Article
- Genetic disorders of the skeleton: a developmental approach.American journal of human genetics · 2003Review
- Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.American journal of human genetics · 2003Article
- A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.American journal of human genetics · 2002Article
- Molecular evolution of the homeodomain family of transcription factors.Nucleic acids research · 2001Article
- Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.American journal of human genetics · 2000Article
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation consisting of 3/4 syndactyly in the hands and 4/5 syndactyly in the feet, with digit duplication in the syndactylous web. The condition recently has been found to result from different-sized expansions of an amino-terminal polyalanine tract in HOXD13. We report a novel type of mutation in HOXD13, associated in some cases with features of classic SPD and in all cases with a novel foot phenotype. In two unrelated families, each with a different intragenic deletion in HOXD13, all mutation carriers have a rudimentary extra digit between the first and second metatarsals and often between the fourth and fifth metatarsals as well. This phenotype has not been reported in any mice with genetic modifications of the HoxD gene cluster. The two different deletions affect the first exon and the homeobox, respectively, in each case producing frameshifts followed by a long stretch of novel sequence and a premature stop codon. Although the affected genes may encode proteins that exert a dominant negative or novel effect, they are most likely to act as null alleles. Either possibility has interesting implications for the role of HOXD13 in human autopod development.
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