Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
Indian J Pediatr. 2020 Mar;87(3):175-178. doi: 10.1007/s12098-019-03148-3. Epub 2020 Jan 29.
To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic manifestations.
All the cases were evaluated using Methylation Specific Multiplex Ligation Dependent Probe Amplification (MS-MLPA) of 11p15.5 region to detect the abnormal methylation status of ICR1 (H19DR) and ICR2 (KvDMR) regions.
The median age at diagnosis was 5.7 mo (range 1.5-13 mo) with female preponderance. Macroglossia, ear creases and abdominal wall defects were the major features. Hypomethylation at ICR2 and hypermethylation at ICR1 was observed in 6/8 and 2/8 patients respectively. No specific genotype and phenotype correlation was observed.
This report highlights the major clinical features of BWS that should prompt pediatricians to offer genetic testing to evaluate the epigenetic abnormalities using MS-MLPA, as it not only helps in appropriate counseling but also provides further guidance about the tumor risk surveillance.
报道 8 例伴有 11p15.5 区域异常的 Beckwith-Wiedemann 综合征（BWS）患者的表型系列，以突出表型表现的范围。
所有病例均采用 11p15.5 区域甲基化特异性多重连接依赖探针扩增（MS-MLPA）进行评估，以检测 ICR1（H19DR）和 ICR2（KvDMR）区域的异常甲基化状态。
诊断时的中位年龄为 5.7 个月（范围 1.5-13 个月），女性居多。巨舌、耳折和腹壁缺陷是主要特征。6/8 例患者存在 ICR2 去甲基化和 ICR1 高甲基化，2/8 例患者分别存在 ICR1 高甲基化和 ICR2 去甲基化。未观察到特定的基因型和表型相关性。
本报告强调了 BWS 的主要临床特征，这应该促使儿科医生提供基因检测，使用 MS-MLPA 评估表观遗传异常，因为它不仅有助于适当的咨询，还可以进一步指导肿瘤风险监测。
