Basel D, DePaepe A, Kilpatrick M W, Tsipouras P
Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA.
Clin Genet. 2003 Oct;64(4):350-4. doi: 10.1034/j.1399-0004.2003.00153.x.
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.
手足裂畸形（SHFM）是一种先天性肢体畸形，表现为手和/或足的正中裂、并指（趾）和多指（趾）。SHFM在遗传上具有异质性，迄今已定位了四个基因座。小鼠并指（趾）畸形（Dac）在表型上与之相似，已被定位到10q24的一个同线区域，SHFM3也定位于此。在Dac中已发现编码泛素化途径成分并指蛋白的基因发生结构改变，导致转录本水平降低。在此，我们报告了几名受SHFM影响的个体中并指蛋白转录本显著减少。这一观察结果支持并指蛋白在SHFM发病机制中起核心作用。
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