Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.
复制标题
威廉姆斯综合征患者的弹性蛋白基因缺失导致皮肤中弹性纤维沉积的改变和亚临床真皮表型。
DOI：
10.1046/j.1525-1470.2000.01703.x
复制
发表时间：
2000
影响因子：
1.5
通讯作者：
Csiszár,K
中科院分区：
文献类型：
--
作者：
Urbán,Z;Peyrol,S;Plauchu,H;Zabot,MT;Lebwohl,M;Schilling,K;Green,M;Boyd,CD;Csiszár,K
Williams syndrome (WS) is a complex developmental disorder with multisystem involvement known to be the result of a microdeletion in the q11.23 region of chromosome 7. This deletion involves several genes, including the elastin gene. Although elastic fibers are important constituents of skin, little is known about the skin phenotype in WS patients. We have therefore studied the skin of four WS patients in which we've shown the deletion of one copy of the elastin gene. Physical examination and indirect immunofluorescent microscopy of elastin did not detect any major phenotypic or morphologic changes in the skin. We were able, however, to show subtle textural changes in skin and, by electron microscopy, that the amorphous component of elastic fibers in WS patients was consistently reduced when compared to normal controls. These findings indicate that deletion of one copy of the elastin gene results in reduced deposition of elastin in dermal elastic fibers, an altered elastic fiber ultrastructure, and a subclinical dermal phenotype in the children and young adult patients analyzed in this study.
