June 1, 2001Journal of Medical GeneticsOpen Access

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

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Population

8 affected members of a family with familial hypertrophic cardiomyopathy and a history of sudden cardiac death

Design

Case_series

Authors

EBEdward BlairNuffield Orthopaedic Centre SPSimon PriceUniversity of Bristol CBCatherine J. BatyUniversity of Pittsburgh

Discussion

Member takes

Implication

May confound HCM genotype-phenotype correlations; leaves open whether exhaustive screening should guide family management.

Structured PICO

Population

8 affected members of a family (Family A) with familial hypertrophic cardiomyopathy (FHC) and a history of sudden cardiac death

Intervention

Comprehensive mutation screening of the β-MHC gene (using linkage analysis, DHPLC, and sequencing)

Outcome

Identification of genetic mutations and genotype-phenotype correlation

The presence of multiple mutations in cis within a single disease gene can confound genotype-phenotype correlations in hypertrophic cardiomyopathy, highlighting the need for comprehensive genetic screening rather than stopping at the first identified mutation.

Limitations

Unknown frequency of double mutations in FHC in the broader population

Cite This Study

Blair et al. (2001) studied this question.

synapsesocial.com/papers/6a727cef35aa2c282ce3477c https://doi.org/10.1136/jmg.38.6.385

Topics

Hypertrophic cardiomyopathy

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Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Topics

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Also Consider

Topics

Also Consider