Rupa Udani, Kala F Schilter, Rebecca C Tyler, Brandon A Smith, Jaime L Wendtandrae, Ulrike P Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V Reddi
{"title":"与严重扩张型心肌病相关的 TNNC1 新型变体导致婴儿死亡和死胎：一个种系嵌合病例。","authors":"Rupa Udani, Kala F Schilter, Rebecca C Tyler, Brandon A Smith, Jaime L Wendtandrae, Ulrike P Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V Reddi","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the <i>TNNC1</i> gene. <i>De novo</i> variants in <i>TNNC1</i> have been associated with different types of CM, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). The American College of Medical Genetics and Genomics recently added <i>TNNC1</i> to their recommended list of genes for reporting secondary findings. In this study, we report a de novo variant, c.100G>C (p.Gly34Arg) in the <i>TNNC1</i> gene identified in three siblings with a diagnosis of severe DCM causing infant death for one of the siblings and stillbirth in the other two pregnancies. The identification of the same <i>de novo</i> variant in all affected siblings is suggestive of germline mosaicism in this family.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A novel variant of <i>TNNC1</i> associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.\",\"authors\":\"Rupa Udani, Kala F Schilter, Rebecca C Tyler, Brandon A Smith, Jaime L Wendtandrae, Ulrike P Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V Reddi\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the <i>TNNC1</i> gene. <i>De novo</i> variants in <i>TNNC1</i> have been associated with different types of CM, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). The American College of Medical Genetics and Genomics recently added <i>TNNC1</i> to their recommended list of genes for reporting secondary findings. In this study, we report a de novo variant, c.100G>C (p.Gly34Arg) in the <i>TNNC1</i> gene identified in three siblings with a diagnosis of severe DCM causing infant death for one of the siblings and stillbirth in the other two pregnancies. The identification of the same <i>de novo</i> variant in all affected siblings is suggestive of germline mosaicism in this family.</p>\",\"PeriodicalId\":15907,\"journal\":{\"name\":\"Journal of Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"EDUCATION & EDUCATIONAL RESEARCH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Genetics","FirstCategoryId":"99","ListUrlMain":"","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"EDUCATION & EDUCATIONAL RESEARCH","Score":null,"Total":0}
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
Pediatric cardiomyopathies (CM) are rare and challenging to diagnose due to the complex and mixed phenotypes. With the advent of next-generation sequencing (NGS), variants in several genes associated with CM have been identified, such as Troponin C (TnC), encoded by the TNNC1 gene. De novo variants in TNNC1 have been associated with different types of CM, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). The American College of Medical Genetics and Genomics recently added TNNC1 to their recommended list of genes for reporting secondary findings. In this study, we report a de novo variant, c.100G>C (p.Gly34Arg) in the TNNC1 gene identified in three siblings with a diagnosis of severe DCM causing infant death for one of the siblings and stillbirth in the other two pregnancies. The identification of the same de novo variant in all affected siblings is suggestive of germline mosaicism in this family.
期刊介绍：
The journal retains its traditional interest in evolutionary research that is of relevance to geneticists, even if this is not explicitly genetical in nature. The journal covers all areas of genetics and evolution,including molecular genetics and molecular evolution.It publishes papers and review articles on current topics, commentaries and essayson ideas and trends in genetics and evolutionary biology, historical developments, debates and book reviews. From 2010 onwards, the journal has published a special category of papers termed ‘Online Resources’. These are brief reports on the development and the routine use of molecular markers for assessing genetic variability within and among species. Also published are reports outlining pedagogical approaches in genetics teaching.
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