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

Clin Genet. 2003 Oct;64(4):350-4. doi: 10.1034/j.1399-0004.2003.00153.x.


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.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • F-Box Proteins
  • Foot Deformities / genetics*
  • Gene Expression*
  • Hand Deformities / genetics*
  • Humans
  • Muscle Proteins / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism*


  • F-Box Proteins
  • FBXW4 protein, human
  • Muscle Proteins
  • Proteins
  • RNA, Messenger