Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
Open Access
- 21 July 2010
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 18 (12) , 1310-1314
- https://doi.org/10.1038/ejhg.2010.116
Abstract
Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼ 481 and 507 kb, separated by a segment of normal copy number. The more centromeric duplication encompasses the entire HOXD cluster, as well as the neighboring genes EVX2 and MTX2. The breakpoints of the duplication localize to the same region as the previously identified inversion of the mouse mutant ulnaless (Ul), which has a similar phenotype as MDK. We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression.Keywords
This publication has 25 references indexed in Scilit:
- A highly annotated whole-genome sequence of a Korean individualNature, 2009
- Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2American Journal of Human Genetics, 2009
- A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndromeJournal of Medical Genetics, 2008
- Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeAmerican Journal of Human Genetics, 2007
- Control of Hoxd Genes' Collinearity during Early Limb DevelopmentDevelopmental Cell, 2006
- Multiple roles ofHoxa11andHoxd11in the formation of the mammalian forelimb zeugopodDevelopment, 2004
- Limb malformations and the human HOX genesAmerican Journal of Medical Genetics, 2002
- A t(2;8) Balanced Translocation with Breakpoints Near the Human HOXD Complex Causes Mesomelic Dysplasia and Vertebral DefectsGenomics, 2002
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32Journal of Human Genetics, 1998
- Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorderAmerican Journal of Medical Genetics, 1992