11p15重复所致银-罗素综合征的产前诊断及家系分析
Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.
作者信息
Hong Shurong, Wei Hua, Zhuang Xueyi, Huang Weirong, Zhang Yu
机构信息
Department of Molecular Genetic Center, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, China.
Department of Obstetrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, China.
出版信息
Front Genet. 2024 Dec 13;15:1465521. doi: 10.3389/fgene.2024.1465521. eCollection 2024.
INTRODUCTION
Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous.
METHODS
Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.5, which caused SRS or a normal phenotype across three generations.
RESULTS
Duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index of 0.62) resulted in typical SRS.
CONCLUSION
The result added to the complexity of the molecular genetics of SRS.
引言
Silver-Russell综合征（SRS）是一种印记障碍，其特征为宫内和出生后生长迟缓。致病改变和表型具有异质性。
方法
在此，我们展示了一个罕见的家系，其中11p15.5存在不同甲基化模式的重复，导致三代人出现SRS或正常表型。
结果
母源IC2重复（拷贝数为3）且甲基化增强（甲基化指数为0.62）导致典型的SRS。
结论
该结果增加了SRS分子遗传学的复杂性。
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