Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 17, Issue 11, Pages 1432-1438Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.72
Keywords
split hand/foot malformation (SHFM); chromosome 7q21q22; DLX5; DLX6; DSS1
Ask authors/readers for more resources
We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal analysis, array comparative genomic hybridization and fluorescence in situ hybridization. Both deletions included the known genes associated with SHFM1 (DLX5, DLX6 and DSS1), whereas in the third patient one of the inversion break points was located just centromeric to these genes. These observations confirm that haploinsufficiency due to either a simultaneous deletion of these genes or combined downregulation of gene expression due to a disruption in the region between these genes and a control element could be the cause of the syndrome. We review previously reported studies that support this hypothetical mechanism. European Journal of Human Genetics (2009) 17, 1432-1438; doi:10.1038/ejhg.2009.72; published online 29 April 2009
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available