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Published on: August 20, 2019

Split hand foot malformation is associated with a reduced level of Dactylin gene expression

D Basel1, A DePaepe, M W Kilpatrick

  • 1Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA.

Clinical Genetics
|September 17, 2003
PubMed

Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM.

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