Split hand foot malformation is associated with a reduced level of Dactylin gene expression. Clin Genet 2003 Oct;64(4):350-4
Date
09/17/2003Pubmed ID
12974740DOI
10.1034/j.1399-0004.2003.00153.xScopus ID
2-s2.0-0141921323 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
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 PAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
F-Box ProteinsFoot Deformities
Gene Expression
Hand Deformities
Humans
Muscle Proteins
Phenotype
Polymerase Chain Reaction
Proteins
RNA, Messenger
