Split hand foot malformation is associated with a reduced level of Dactylin gene expression.
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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Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA.
DePaepe
A
A
Kilpatrick
M W
MW
Tsipouras
P
P
D044783:F-Box Proteins; D005530:Foot Deformities / Q000235:genetics*; D015870:Gene Expression; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*
D044783:F-Box Proteins; C120449:FBXW4 protein, human; D009124:Muscle Proteins; D011506:Proteins; D012333:RNA, Messenger