Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 18, Issue 12, Pages 1310-1314Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.116
Keywords
HOXD; MDK; microduplication
Funding
- Deutsche Forschungsgemeinschaft
- Thailand Research Fund (TRF)
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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 similar to 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. European Journal of Human Genetics (2010) 18, 1310-1314; doi: 10.1038/ejhg.2010.116; published online 21 July 2010
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