辛普森-戈拉比-贝梅尔综合征。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-05-20 DOI:10.1002/ajmg.c.32088
Alessandro Vaisfeld, Giovanni Neri
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引用次数: 0

摘要

辛普森-戈拉比-贝梅尔综合征(SGBS;OMIM 312870)是一种发育过度/多发性先天性畸形/发育不良病症,为 X 连锁半显性遗传,在男性中表现不一,而在女性中则渗透性和表现性降低。该病的临床表现范围很广,从男性和女性的轻微表现到多发性畸形和新生儿死亡不等。据报道,瘤变的风险增加,需要定期监测。大多数病例的智力发育正常。SGBS 由 GPC3 基因的功能缺失突变引起,基因缺失或点突变分布在整个基因中。值得注意的是,在临床诊断的 SGBS 病例中,GPC3 基因缺失/点突变的比例并不高。蛋白产物 GPC3 是一种糖蛋白,作为细胞表面的 Hh 受体,参与 Hh-Ptc-Smo 信号通路,是细胞生长的调节因子。
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Simpson-Golabi-Behmel syndrome.

The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance. Intellectual development is normal in most cases. SGBS is caused by a loss-of-function mutation of the GPC3 gene, either deletions or point mutations, distributed all over the gene. Notably, GPC3 deletion/point mutations are not found in a significant proportion of clinically diagnosed SGBS cases. The protein product GPC3 is a glypican functioning as a receptor for Hh at the cell surface, involved in the Hh-Ptc-Smo signaling pathway, a regulator of cellular growth.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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