{"title":"Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.","authors":"Shurong Hong, Hua Wei, Xueyi Zhuang, Weirong Huang, Yu Zhang","doi":"10.3389/fgene.2024.1465521","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>Duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index of 0.62) resulted in typical SRS.</p><p><strong>Conclusion: </strong>The result added to the complexity of the molecular genetics of SRS.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1465521"},"PeriodicalIF":2.8000,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686225/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3389/fgene.2024.1465521","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
Frontiers in GeneticsBiochemistry, 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.
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