ALU transposition induces familial hypertrophic cardiomyopathy.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of which act in a dominant-negative fashion. However loss-of-function (haploinsufficiency) is the most common disease mechanism for pathogenic variants in MYBPC3, suggesting that MYBPC3 complete deletion may play a role in HCM pathogenesis. Here, we investigate MYBPC3 complete deletion as a disease mechanism in HCM by analyzing two unrelated patients with confirmed diagnosis of HCM that tested negative by Sanger sequencing analysis.

Methods

MYBPC3 complete deletion was investigated by Multiplex ligation-dependent probe amplific

SUBMITTER: Nfonsam L 

PROVIDER: S-EPMC6978237 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature