辛普森-高拉比-比姆综合征的表型谱和肿瘤风险：病例系列和全面文献复习。
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
机构信息
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
出版信息
Am J Med Genet A. 2024 Dec;194(12):e63840. doi: 10.1002/ajmg.a.63840. Epub 2024 Aug 19.
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.
摘要
辛普森-高拉比-比姆尔综合征（SGBS）是一种罕见的先天性过度生长疾病，其特征为巨大儿、巨舌、粗糙的面部特征和发育迟缓。它是由 Xq26.2 染色体上 GPC3 基因的致病性变异引起的。在这里，我们对分子证实的 SGBS 已知患者进行了全面的文献回顾和表型分析，并回顾了 22 例新的患者队列。利用这些数据，我们对肾母细胞瘤和肝母细胞瘤的肿瘤风险进行了特征描述，以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 与贝克威思-威德曼综合征之间的表型重叠。
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