Reevaluation of the South Asian <i>MYBPC3</i>^Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.

ABSTRACT:

Background

The common intronic deletion, MYBPC3^Δ25, detected in 4% to 8% of South Asian populations, is reported to be associated with cardiomyopathy, with ≈7-fold increased risk of disease in variant carriers. Here, we examine the contribution of MYBPC3^Δ25 to hypertrophic cardiomyopathy (HCM) in a large patient cohort.

Methods

Sequence data from 2 HCM cohorts (n=5393) was analyzed to determine MYBPC3^Δ25 frequency and co-occurrence of pathogenic variants in HCM genes. Case-control and haplotype analyses were performed to compare variant frequencies and assess disease association. Analyses were also undertaken to investigate the pathogenicity of a candidate variant MYBPC3 c.1224-52G>A.

Results

Our data sugges

SUBMITTER: Harper AR 

PROVIDER: S-EPMC7299222 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature