Wu Ziying, Yin Xi, Li Xiuzhen, Mei Huifen, Li Junzan, Huang Zien, Cheng Jing, Yi Peng, Zhang Wen, Xu Aijing
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Transl Pediatr. 2025 Aug 31;14(8):1761-1769. doi: 10.21037/tp-2025-219. Epub 2025 Aug 18.
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by various clinical features. The purpose of this study was to investigate the molecular diagnostic and clinical features of BWS in Chinese pediatric patients.
This retrospective study reviewed the clinical data of 24 pediatric patients diagnosed with BWS at the Guangzhou Women and Children's Medical Center, Guangzhou Medical University from 2014 to 2024. To assess genetic abnormalities, molecular analysis was performed using array comparative genomic hybridization (Array-CGH) as well as methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).
With a range of fetal period to four years, the median age at diagnosis was nine months. Cardinal features were macroglossia (95.8%), lateralized overgrowth (54.2%), and omphalocele (25%). Suggestive features included transient hypoglycemia (20.8%), hepatomegaly or nephromegaly (8.3%), and facial port-wine stain or ear-lobe creases (8.3%). Molecular analysis revealed that 57.9% of patients had methylation abnormalities in the imprinting control region 2 (IC2), while 5.3% had abnormalities in imprinting control region 1 (IC1), and 36.8% diagnosed with uniparental disomy (UPD). One patient also exhibited a rare homozygous mutation in the gene and a heterozygous mutation in the gene.
This study investigates the significance of early genetic testing in the clinical and molecular features of pediatric BWS demonstrating that MLPA exhibits its higher sensitivity and specificity for genetic testing in these patients. Furthermore, the findings identified a high prevalence of UPD in the southern Chinese population and highlighted the diagnostic role of chromosomal microarray analysis (CMA) in detecting UPD-related phenotypes in patients with BWS.
贝克威思-维德曼综合征（BWS）是一种具有多种临床特征的遗传性疾病。本研究的目的是调查中国儿科患者中BWS的分子诊断和临床特征。
这项回顾性研究回顾了2014年至2024年在广州医科大学附属广州市妇女儿童医疗中心诊断为BWS的24例儿科患者的临床资料。为了评估基因异常，使用阵列比较基因组杂交（Array-CGH）以及甲基化特异性多重连接依赖探针扩增（MS-MLPA）进行分子分析。
诊断年龄中位数为9个月，范围从胎儿期到4岁。主要特征为巨舌（95.8%）、偏侧性过度生长（54.2%）和脐膨出（25%）。提示性特征包括短暂性低血糖（20.8%）、肝肿大或肾肿大（8.3%）以及面部葡萄酒色斑或耳垂皱纹（8.3%）。分子分析显示，57.9%的患者在印记控制区域2（IC2）存在甲基化异常，而5.3%的患者在印记控制区域1（IC1）存在异常，36.8%被诊断为单亲二体（UPD）。一名患者还在 基因中表现出罕见的纯合突变，在 基因中表现出杂合突变。
本研究调查了早期基因检测在儿科BWS临床和分子特征中的意义，表明MLPA在这些患者的基因检测中表现出更高的敏感性和特异性。此外，研究结果确定了中国南方人群中UPD的高患病率，并强调了染色体微阵列分析（CMA）在检测BWS患者中与UPD相关表型的诊断作用。
