Medical College of Wisconsin
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Split hand foot malformation is associated with a reduced level of Dactylin gene expression. Clin Genet 2003 Oct;64(4):350-4 PMID: 12974740

Pubmed ID

12974740

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.

Author List

Basel D, DePaepe A, Kilpatrick MW, Tsipouras P

Author

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin




Scopus

2-s2.0-0141921323   20 Citations

MESH terms used to index this publication - Major topics in bold

F-Box Proteins
Foot Deformities
Gene Expression
Hand Deformities
Humans
Muscle Proteins
Phenotype
Polymerase Chain Reaction
Proteins
RNA, Messenger
jenkins-FCD Prod-297 dff1a717c492f00bf6291286365f1f4fe95208f1