Oligogenic inheritance of a human heart disease involving a genetic modifier
Abstract
Complex genetic mechanisms are thought to underlie many human diseases, yet experimental proof of this model has been elusive. Here, we show that a human cardiac anomaly can be caused by a combination of rare, inherited heterozygous mutations. Whole-exome sequencing of a nuclear family revealed that three offspring with childhood-onset cardiomyopathy had inherited three missense single-nucleotide variants in the MKL2, MYH7, and NKX2-5 genes. The...
Paper Details
Title
Oligogenic inheritance of a human heart disease involving a genetic modifier
Published Date
May 31, 2019
Journal
Volume
364
Issue
6443
Pages
865 - 870
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