High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.

IF 3.2 3区医学 Q2 GENETICS & HEREDITY

Journal of Assisted Reproduction and Genetics Pub Date : 2025-06-04 DOI:10.1007/s10815-025-03521-6

Debbie Montjean, Walaa Darwiche, Nellie Fotopoulos, Marie-Hélène Godin Pagé, Raouf Fetni, Francis Petrella, Marie-Claire Bélanger, Guillaume Jedraszak, Moncef Benkhalifa, Pierre Miron

{"title":"High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.","authors":"Debbie Montjean, Walaa Darwiche, Nellie Fotopoulos, Marie-Hélène Godin Pagé, Raouf Fetni, Francis Petrella, Marie-Claire Bélanger, Guillaume Jedraszak, Moncef Benkhalifa, Pierre Miron","doi":"10.1007/s10815-025-03521-6","DOIUrl":null,"url":null,"abstract":"Purpose: This case report describes a 36-year-old male with primary infertility, associated with a balanced reciprocal translocation between chromosomes 1 and 7. The translocation was initially identified through constitutional karyotyping and further characterized using optical genome mapping (OGM).Methods: Optical genome mapping (OGM) an advanced genomic tool with high-resolution structural variant detection capabilities was used to further characterize the translocation.Results: OGM pinpointed specific breakpoints within the ASB17 gene on chromosome 1 and the INHBA-AS1 gene on chromosome 7, with potential regulatory effects on MSH4 and GLI3, genes involved in meiotic recombination and reproductive development.Conclusions: This report explores the potential roles of these genes in spermatogenesis, discusses chromatin decondensation and interchromosomal effects as additional infertility mechanisms, and underscores the clinical value of OGM in reproductive genetics.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2000,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03521-6","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: This case report describes a 36-year-old male with primary infertility, associated with a balanced reciprocal translocation between chromosomes 1 and 7. The translocation was initially identified through constitutional karyotyping and further characterized using optical genome mapping (OGM).

Methods: Optical genome mapping (OGM) an advanced genomic tool with high-resolution structural variant detection capabilities was used to further characterize the translocation.

Results: OGM pinpointed specific breakpoints within the ASB17 gene on chromosome 1 and the INHBA-AS1 gene on chromosome 7, with potential regulatory effects on MSH4 and GLI3, genes involved in meiotic recombination and reproductive development.

Conclusions: This report explores the potential roles of these genes in spermatogenesis, discusses chromatin decondensation and interchromosomal effects as additional infertility mechanisms, and underscores the clinical value of OGM in reproductive genetics.

查看原文本刊更多论文

高分辨率光学基因组图谱揭示了互惠染色体易位和严重男性不育症的基因破坏：一个病例报告。

目的：本病例报告描述了一位36岁男性原发性不育症，与1号染色体和7号染色体之间的平衡互惠易位有关。该易位最初通过体质核型鉴定，并进一步利用光学基因组定位（OGM）进行表征。方法：光学基因组定位（OGM）是一种先进的基因组工具，具有高分辨率的结构变异检测能力，用于进一步表征易位。结果：OGM确定了1号染色体上ASB17基因和7号染色体上inhb - as1基因的特定断点，对参与减数分裂重组和生殖发育的基因MSH4和GLI3具有潜在的调控作用。结论：本报告探讨了这些基因在精子发生中的潜在作用，讨论了染色质去致密化和染色体间效应作为额外的不育机制，并强调了OGM在生殖遗传学中的临床价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Assisted Reproduction and Genetics 医学-妇产科学

CiteScore

5.70

自引率

9.70%

发文量

286

审稿时长

1 months

期刊介绍： The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.