ArticleJournal of medical genetics2006
Breakpoints around the HOXD cluster result in various limb malformations.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 52 citations in OpenAlex.
- Genetic cold cases: lessons from solving complex congenital limb disorders.Genes & development · 2023Review
- A Novel Missense Variant ofBioMed research international · 2020Article
- 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
- A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries).Scientific reports · 2016Article
- Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.Human genetics · 2014Review
- Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.European journal of human genetics : EJHG · 2011Article
- cis-regulatory mutations are a genetic cause of human limb malformations.Developmental dynamics : an official publication of the American Association of Anatomists · 2011Review
- Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.European journal of human genetics : EJHG · 2010Article
- Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families.Acta pharmacologica Sinica · 2010Article
- Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri-Weill dyschondrosteosis.Journal of human genetics · 2008Article
- Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.American journal of medical genetics. Part A · 2007Article
- Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.Journal of medical genetics · 2006Article
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCharacterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.
methodsWe have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31. Patient 1 with severe brachydactyly and syndactyly, mental retardation, hypoplasia of the cerebellum, scoliosis, and ectopic anus, carries a balanced t(2;10)(q31.1;q26.3) translocation. Patient 2, with translocation t(2;10)(q31.1;q23.33), has aplasia of the ulna, shortening of the radius, finger anomalies, and scoliosis. Patient 3 carries a pericentric inversion of chromosome 2, inv(2)(p15q31). Her phenotype is characterised by bilateral aplasia of the fibula and the radius, bilateral hypoplasia of the ulna, unossified carpal bones, and hypoplasia and dislocation of both tibiae.
resultsBy fluorescence in situ hybridisation, we have mapped the breakpoints to intervals of approximately 170 kb or less. None of the three 2q31 breakpoints, which all mapped close to the HOXD cluster, disrupted any known genes.
conclusionsHoxd gene expression in the mouse is regulated by cis-acting DNA elements acting over distances of several hundred kilobases. Moreover, Hoxd genes play an established role in bone development. It is therefore very likely that the three rearrangements disturb normal HOXD gene regulation by position effects.
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