Functional Characterization of a Novel Mutation in <i>NKX2-5</i> Associated With Congenital Heart Disease and Adult-Onset Cardiomyopathy

Abstract

Certain NKX2-5 homeodomain mutations show abnormal protein degradation via the Ubiquitin-proteasome system and partially impaired transcriptional activity. We propose that this class of mutation can impair heart development and mature heart function and contribute to NKX2-5-related cardiomyopathies with graded severity.