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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50386

Klopocki,  E.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hennig,  B. P.
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Kantaputra, P. N., Klopocki, E., Hennig, B. P., Praphanphoj, V., Le Caignec, C., Isidor, B., et al. (2010). Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics, 18(12), 1310-1314. doi:10.1038/ejhg.2010.116.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-7AAC-D
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 approximately 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.