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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant
Krista Heliö1, Mikko I Mäyränpää2, Inka Saarinen3
1Heart and Lung Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Frontiers in Genetics
|December 13, 2021
Summary
Newly identified homozygous GCOM1 variants cause familial dilated cardiomyopathy (DCM) in Finnish families. This genetic finding expands our understanding of inherited heart conditions and identifies novel gene targets for DCM.
Area of Science:
- Cardiovascular Genetics
- Human Genetics
- Molecular Cardiology
Background:
- Familial dilated cardiomyopathy (DCM) is a genetic heart muscle disease.
- Existing genetic panels do not explain all familial DCM cases.
- Two Finnish families presented with unexplained inherited cardiomyopathy.
Purpose of the Study:
- To identify the genetic cause of cardiomyopathy in two Finnish families.
- To characterize the cardiac phenotype associated with novel genetic variants.
- To investigate the role of GCOM1 gene variants in human DCM.
Main Methods:
- Whole-exome sequencing in probands.
- Bi-directional Sanger sequencing for variant confirmation in family members.
- Clinical evaluation, medical record review, and immunohistochemical analysis of myocardial tissue.
Main Results:
- Homozygous truncating GCOM1 variants were identified in six affected individuals.
- Heterozygous family members did not meet cardiomyopathy criteria.
- Heart failure was the primary clinical manifestation, with a tendency for atrial arrhythmias.
Conclusions:
- GCOM1 variants are a significant cause of human familial dilated cardiomyopathy.
- This study underscores the importance of exploring novel genes beyond established panels.
- Genetic diagnostics for inherited cardiomyopathies require continuous expansion.
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