ALU transposition induces familial hypertrophic cardiomyopathy

ConclusionOur results demonstrate that haploinsufficiency resulting fromMYBPC3 complete deletion, potentially mediated byAlu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM.

Source: Molecular Genetics & Genomic Medicine - September 29, 2019 Category: Genetics & Stem Cells Authors: Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan ‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Ma Tags: ORIGINAL ARTICLE Source Type: research