A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
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DOI：
10.1007/s100380050170
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发表时间：
1999-01-01
影响因子：
3.5
通讯作者：
Wada, Y
中科院分区：
文献类型：
--
作者：
Okamoto, N;Yagi, M;Wada, Y
辛普森-戈拉比-贝梅尔综合征（SGBS）是过度生长综合征之一。 Pilia 等人描述了磷脂酰肌醇蛋白聚糖 3 (GPC3) 基因的微缺失。 （1996）。 Glypican-3 编码一种假定的细胞外蛋白多糖，其在胚胎中胚层组织中表达并在胚胎生长中发挥重要作用。我们报告了一名患有 SGBS 的日本患者，其 GPC3 基因的外显子 7 存在单碱基缺失。这是GPC3基因单碱基缺失的首次报道。
Simpson-Golabi-Behmel syndrome (SGBS) is one of the overgrowth syndromes. Microdeletions of the glypican-3 (GPC3) gene were described by Pilia et al. (1996). Glypican-3 encodes a putative extracellular proteoglycan which is expressed in embryonic mesodermal tissues and plays an important role in embryonal growth. We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. This is the first report of a single base deletion of the GPC3 gene.