{"title":"全外显子组测序发现了一种可能导致肥厚型心肌病的致病性 LMNA 变异。","authors":"Mohammad Mahdavi, Neda Mohsen-Pour, Majid Maleki, Serwa Ghasemi, Avisa Tabib, Golnaz Houshmand, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia","doi":"10.1093/labmed/lmad038","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM).</p><p><strong>Background: </strong>A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed to assess the genetic cause(s) of HCM in a consanguineous Iranian family.</p><p><strong>Results: </strong>Missense likely pathogenic variant c.1279C>T (p.Arg427Cys) within exon 7 of the LMNA gene (NM_170707) was found. The segregations were confirmed by polymerase chain reaction-based Sanger sequencing.</p><p><strong>Conclusions: </strong>Variant c.1279C>T (p.Arg427Cys) in the LMNA gene seemed to have been the cause of HCM in the family. A few LMNA gene variants related to HCM phenotypes have been recognized so far. Identifying HCM genetic basis confers significant opportunities to understand how the disease can develop and, by extension, how this progression can be arrested. Our study supports WES effectiveness for first-tier variant screening of HCM in a clinical setting.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"62-70"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.\",\"authors\":\"Mohammad Mahdavi, Neda Mohsen-Pour, Majid Maleki, Serwa Ghasemi, Avisa Tabib, Golnaz Houshmand, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia\",\"doi\":\"10.1093/labmed/lmad038\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM).</p><p><strong>Background: </strong>A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was performed to assess the genetic cause(s) of HCM in a consanguineous Iranian family.</p><p><strong>Results: </strong>Missense likely pathogenic variant c.1279C>T (p.Arg427Cys) within exon 7 of the LMNA gene (NM_170707) was found. The segregations were confirmed by polymerase chain reaction-based Sanger sequencing.</p><p><strong>Conclusions: </strong>Variant c.1279C>T (p.Arg427Cys) in the LMNA gene seemed to have been the cause of HCM in the family. A few LMNA gene variants related to HCM phenotypes have been recognized so far. Identifying HCM genetic basis confers significant opportunities to understand how the disease can develop and, by extension, how this progression can be arrested. Our study supports WES effectiveness for first-tier variant screening of HCM in a clinical setting.</p>\",\"PeriodicalId\":17951,\"journal\":{\"name\":\"Laboratory medicine\",\"volume\":\" \",\"pages\":\"62-70\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Laboratory medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/labmed/lmad038\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laboratory medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/labmed/lmad038","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Objective: We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM).
Background: A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families.
Methods: Whole-exome sequencing (WES) was performed to assess the genetic cause(s) of HCM in a consanguineous Iranian family.
Results: Missense likely pathogenic variant c.1279C>T (p.Arg427Cys) within exon 7 of the LMNA gene (NM_170707) was found. The segregations were confirmed by polymerase chain reaction-based Sanger sequencing.
Conclusions: Variant c.1279C>T (p.Arg427Cys) in the LMNA gene seemed to have been the cause of HCM in the family. A few LMNA gene variants related to HCM phenotypes have been recognized so far. Identifying HCM genetic basis confers significant opportunities to understand how the disease can develop and, by extension, how this progression can be arrested. Our study supports WES effectiveness for first-tier variant screening of HCM in a clinical setting.
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