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      https://www.ias.ac.in/article/fulltext/jgen/102/0014

    • Keywords

       

      pediatric cardiomyopathy; TNNC1 gene; germline mosaicism; infant mortality.

    • Abstract

       

      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.

    • Author Affiliations

       

      RUPA UDANI1 2 KALA F. SCHILTER1 REBECCA C. TYLER1 BRANDON A. SMITH1 JAIME L. WENDTANDRAE1 ULRIKE P. KAPPES1 2 3 4 GUNTER SCHARER1 ANNA LEHMAN5 MICHELLE STEINRATHS5 HONEY V. REDDI1 3 6

      1. Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
      2. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
      3. Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
      4. Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
      5. Department of Medical Genetics, University of British Columbia, Endowment Lands V6T1T4, Canada
      6. Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA

    • Dates

       
      Published
      9 January 2023
      Manuscript received
      29 July 2022
      Manuscript revised
      2 November 2022
      Accepted
      9 November 2022

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