What does this research mean for the field?

Codon 102 of the cardiac troponin T (TNNT2) gene is a putative mutational hot spot for familial hypertrophic cardiomyopathy, with the novel Arg102Leu mutation demonstrating complete penetrance and phenotypic variability. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

December 15, 1996Circulation

Codon 102 of the Cardiac Troponin T Gene Is a Putative Hot Spot for Mutations in Familial Hypertrophic Cardiomyopathy

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Population

Unrelated French families with familial hypertrophic cardiomyopathy (specifically family 715)

Design

Other

Authors

JFJean-Franc ̧ois ForissierCentre National de la Recherche Scientifique LCLucie CarrierHeart Failure & Transplant HFHend FarzaJohn Radcliffe Hospital

Discussion

Member takes

Implication

Codon 102 emerges as a putative TNNT2 hotspot in familial HCM; extends genetic mapping but leaves prognostic generalizability open.

Structured PICO

Population

Unrelated French families with familial hypertrophic cardiomyopathy (specifically family 715)

Intervention

Genetic screening and linkage analysis of the TNNT2 gene

Outcome

Identification of mutations in the TNNT2 gene and genotype-phenotype correlationssurrogate

Codon 102 of the TNNT2 gene is identified as a putative mutational hot spot for familial hypertrophic cardiomyopathy, associated with complete penetrance but variable phenotypic expression.

Limitations

Analysis of more pedigrees carrying mutations in this codon is necessary to better characterize clinical and prognostic implications

Cite This Study

Forissier et al. (1996) studied this question.

synapsesocial.com/papers/6a1d346e43708a372d5de4e9 https://doi.org/10.1161/01.cir.94.12.3069

Topics

Echocardiography Hypertrophic cardiomyopathy

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Codon 102 of the Cardiac Troponin T Gene Is a Putative Hot Spot for Mutations in Familial Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Topics

Codon 102 of the Cardiac Troponin T Gene Is a Putative Hot Spot for Mutations in Familial Hypertrophic Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

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Topics

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