Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2024-12-13 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1465521

Shurong Hong, Hua Wei, Xueyi Zhuang, Weirong Huang, Yu Zhang

引用次数: 0

Abstract

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.

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11p15重复引起银罗素综合征的产前诊断及家系分析。

简介：银罗素综合征（Silver-Russell syndrome， SRS）是一种以宫内和出生后生长迟缓为特征的印记障碍。致病改变和表型是异质性的。方法：在这里，我们提出了一个罕见的11p15.5基因具有不同甲基化模式的重复谱系，这导致了三代间的SRS或正常表型。结果：母代IC2（拷贝数为3）的重复，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。

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

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.