Key result
The Lys247Arg (K247R) mutation in the TNNT2 gene was present in 13 of 37 family members (38.2%) but showed no correspondence to the phenotypic expression of hypertrophic cardiomyopathy.
Why the study?
Does the K247R mutation in the TNNT2 gene correlate with the phenotypic expression of hypertrophic cardiomyopathy in this family?
Population
37 members belonging to one Colombian family across five generations with a history of hypertrophic…
Design
Case_series
Authors
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Caution against classifying K247R TNNT2 as pathogenic in HCM families; leaves open need for functional studies and variant reclassification.
Observational (n=37)
Does the K247R mutation in the TNNT2 gene correlate with the phenotypic expression of hypertrophic cardiomyopathy in this family?
The K247R genetic variant in the TNNT2 gene did not correspond to the phenotypic expression of hypertrophic cardiomyopathy in the studied family, suggesting it may be a polymorphism rather than a causal mutation.
Guillermo Mora Pabon Juan Fernando Agudelo (2014) conducted an observational in Hypertrophic cardiomyopathy (n=37). Lys247Arg (K247R) mutation in the TNNT2 gene vs. Absence of the mutation was evaluated on Phenotypic expression of hypertrophic cardiomyopathy (hypertrophy on echocardiography). The Lys247Arg (K247R) mutation in the TNNT2 gene was present in 13 of 37 family members (38.2%) but showed no correspondence to the phenotypic expression of hypertrophic cardiomyopathy.
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