Split hand foot malformation is associated with a reduced level of Dactylin gene expression

被引：20

作者：

Basel, D

DePaepe, A

Kilpatrick, MW

Tsipouras, P

机构：

[1] Univ Connecticut, Ctr Hlth, Dept Pediat, Farmington, CT 06030 USA

[2] Univ Ghent, Ctr Med Genet, Ghent, Belgium

来源：

CLINICAL GENETICS | 2003年 / 64卷 / 04期

关键词：

apical ectodermal ridge; chromosome; 10; dactylaplasia; dactylin; limb malformation; SHFM;

D O I：

10.1034/j.1399-0004.2003.00153.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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收藏

页码：350 / 354

页数：5

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