辛普森-戈拉比-贝梅尔综合征的表型谱和肿瘤风险：病例系列和综合文献综述。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-19 DOI:10.1002/ajmg.a.63840

Alex F. Nisbet, Aravind Viswanathan, Andrew M. George, Pedro Arias, Steven D. Klein, Julian Nevado, Alejandro Parra, Patricia Pascual, Dominic J. Romeo, Jair Tenorio-Castaño, Jesse A. Taylor, Elaine H. Zackai, Pablo Lapunzina, Jennifer M. Kalish

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引用次数: 0

摘要

辛普森-戈拉比-贝梅尔综合征（Simpson-Golabi-Behmel Syndrome，SGBS）是一种罕见的先天性发育过度症，以巨型畸形、巨口症、面部特征粗糙和发育迟缓为特征。它是由染色体 Xq26.2 上 GPC3 基因的致病变异引起的。在此，我们对已知的经分子确诊的 SGBS 患者进行了全面的文献回顾和表型分析，并对 22 例患者的新队列进行了回顾。利用这些数据，我们描述了罹患威尔姆斯肿瘤和肝母细胞瘤的肿瘤风险，并建议对这一患者群体进行适当的筛查。此外，我们还讨论了 SGBS 与 Beckwith-Wiedemann Spectrum 之间的表型重叠。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

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Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review

Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith-Wiedemann Spectrum.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.