title: Split hand foot malformation is associated with a reduced level of Dactylin gene expression.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA.
authors.forename: D
authors.initials: D
authors.lastname: Basel
authors.forename: A
authors.initials: A
authors.lastname: DePaepe
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: P
authors.initials: P
authors.lastname: Tsipouras
mesh_terms: 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*
chemical_list: D044783:F-Box Proteins; C120449:FBXW4 protein, human; D009124:Muscle Proteins; D011506:Proteins; D012333:RNA, Messenger