Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy

Taranjit Singh Rai, Shamim Ahmad, Ajay Bahl, Monica Ahuja, Tarunveer Singh Ahluwalia, Balvinder Singh, K. K. Talwar, Madhu Khullar

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The aim of the current study was to determine the frequency of mutations in the beta-myosin heavy chain gene (MYH7) in a cohort of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) and their families, and to investigate correlations between genotype and phenotype. About 130 consecutive patients diagnosed with HCM or DCM (69 with HCM and 61 with DCM) attending the cardiology clinic of Post Graduate Institute of Medical Education and Research were screened for mutations in the MYH7 gene. The control group for genetic studies consisted of 100 healthy subjects. We report 14 mutations in 6 probands (5 probands in HCM and 1 proband in DCM) and their family members. Out of these 6 mutations, 3 are new and are being reported for the first time. One known mutation (p.Gly716Arg) was found to be "de novo" which resulted in severe asymmetric septal hypertrophy (31 mm) and resulted in the sudden cardiac death (SCD) of the proband at the age of 21 years. Further, a DCM causing novel mutation p.Gly377Ser was identified which resulted in the milder phenotype. The present study shows that there is genetic and phenotypic heterogeneity of cardiomyopathies in Indian population. Further, the location and type of mutation in a given sarcomeric gene determines the severity and phenotypic plasticity in cardiomyopathies.

LanguageEnglish
Pages189-196
Number of pages8
JournalMolecular and Cellular Biochemistry
Volume321
Issue number1-2
DOIs
Publication statusPublished - 1 Jan 2009

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Ventricular Myosins
Myosin Heavy Chains
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Genetic Association Studies
Genes
Mutation
Medical education
Cardiology
Cardiomyopathies
Plasticity
Graduate Medical Education
Genetic Heterogeneity
Sudden Cardiac Death
Mutation Rate
Hypertrophy
Biomedical Research
Healthy Volunteers
Phenotype
Control Groups

Keywords

  • Beta myosin heavy chain
  • Dilated cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Mutation

Cite this

Rai, Taranjit Singh ; Ahmad, Shamim ; Bahl, Ajay ; Ahuja, Monica ; Ahluwalia, Tarunveer Singh ; Singh, Balvinder ; Talwar, K. K. ; Khullar, Madhu. / Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. In: Molecular and Cellular Biochemistry. 2009 ; Vol. 321, No. 1-2. pp. 189-196.
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Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. / Rai, Taranjit Singh; Ahmad, Shamim; Bahl, Ajay; Ahuja, Monica; Ahluwalia, Tarunveer Singh; Singh, Balvinder; Talwar, K. K.; Khullar, Madhu.

In: Molecular and Cellular Biochemistry, Vol. 321, No. 1-2, 01.01.2009, p. 189-196.

Research output: Contribution to journalArticle

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