Abstract
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterised by unexplained left ventricular hypertrophy in the absence of abnormal loading conditions. The global prevalence of HCM is estimated to be 1 in 250 in the general population. It is caused due to mutations in genes coding for sarcomeric proteins. α-tropomyosin (TPM1) is an important protein in the sarcomeric thin filament which regulates sarcomere contraction. Mutations in TPM1 are known to cause hypertrophic cardiomyopathy, dilated cardiomyopathy and left ventricular non-compaction. Mutations in TPM1 causing hypertrophic cardiomyopathy are < 1%. However, some high-risk mutations causing sudden cardiac death are also known in this gene. We present a case of a novel heterozygous TPM1 mutation, NM_001018005.2:c.203A>G, p.Gln68Arg; co-segregating in an Indian family with hypertrophic cardiomyopathy. Our report expands the mutational spectrum of HCM due to TPM1 and provides the correlated cardiac phenotype.
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Acknowledgements
We are grateful to the study subjects for their participation and cooperation. This work was funded by the Department of Science and Technology—Science and Engineering Research Board (DST-SERB) Grant file no: EEQ/2019/000477, Government of India. We also acknowledge the support from Technology Information, Forecasting and Assessment Council (TIFAC-CORE) and Department of Science and Technology, Fund for improvement of Science and Technology (DST-FIST), Government of India. Prabodh Kumar thanks Manipal Academy of Higher Education for Dr T.M.A. Pai student fellowship and Council of Scientific and Industrial Research (CSIR), New Delhi, for Senior Research Fellowship (File No: 09/1165(0010)/2019-EMR-I).
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The Institutional Ethics Committee of Kasturba Medical College, Manipal, approved the study (No.461/2017).
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Kumar, P., Paramasivam, G., Devasia, T. et al. A Novel TPM1 Mutation Causes Familial Hypertrophic Cardiomyopathy in an Indian Family: Genetic and Clinical Correlation. Ind J Clin Biochem 39, 142–145 (2024). https://doi.org/10.1007/s12291-022-01036-w
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DOI: https://doi.org/10.1007/s12291-022-01036-w