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Split hand foot malformation is associated with a reduced level of Dactylin gene expression
Author(s) -
Basel D,
DePaepe A,
Kilpatrick MW,
Tsipouras P
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00153.x
Subject(s) - polydactyly , syndactyly , ectrodactyly , limb bud , biology , genetics , gene , foot (prosody) , pathogenesis , limb development , anatomy , immunology , linguistics , philosophy , ectodermal dysplasia
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.