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

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A 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

引用次数: 0

Abstract

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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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。

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。

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .