ArticleAmerican journal of human genetics2002
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- 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
- Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.Journal of ovarian research · 2024Article
- A Rare Case Report of Split Hand and Foot Malformation.Journal of orthopaedic case reports · 2023Article
- Cracking the Code of Neuronal Cell Fate.Cells · 2023Review
- A novel chromosome 2q24.3-q32.1 microdeletion in a fetus with multiple malformations.Journal of clinical laboratory analysis · 2022Article
- Review
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification.Molecular syndromology · 2020Article
- Article
- Duplication of 10q24 locus: broadening the clinical and radiological spectrum.European journal of human genetics : EJHG · 2019Article
- Limb development: a paradigm of gene regulation.Nature reviews. Genetics · 2017Review
- A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries).Scientific reports · 2016Article
- Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Scientific reports · 2015Article
- Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.Journal of applied genetics · 2015Article
- Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.European journal of human genetics : EJHG · 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
- Split-hand/foot malformation - molecular cause and implications in genetic counseling.Journal of applied genetics · 2014Review
- Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.BMC medical genetics · 2013Article
- The epidemiology, genetics and future management of syndactyly.The open orthopaedics journal · 2012Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies in mouse and chick have shown that the 5' HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (SPD). Haploinsufficiency for the 5' HOXD genes has recently been proposed to underlie the monodactyly and penoscrotal hypoplasia in two children with chromosomal deletions encompassing the entire HOXD cluster. Similar deletions, however, have previously been associated with split-hand/foot malformation (SHFM), including monodactyly. Here we report a father and daughter with SPD who carry a 117-kb microdeletion at the 5' end of the HOXD cluster. By sequencing directly across the deletion breakpoint, we show that this microdeletion removes only HOXD9-HOXD13 and EVX2. We also report a girl with bilateral split foot and a chromosomal deletion that includes the entire HOXD cluster and extends approximately 5 Mb centromeric to it. Our findings indicate that haploinsufficiency for the 5' HOXD genes causes not SHFM but SPD and point to the presence of a novel locus for SHFM in the interval between EVX2 and D2S294. They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole.
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