Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia. Issue 4 (16th March 2015) - Reinstein, Eyal
Abstract The term hereditary cardiomyopathy has been applied to heritable forms of heart failure with identifiable inheritance patterns. Although many cardiomyopathies have a genetic basis, only a limited number of genes have been identified as disease loci. We describe a novel cardiomyopathy syndrome caused by mutations in TAX1BP3; a gene previously not connected to monogenic disorders, thus expanding the spectrum of hereditary cardiomyopathies and suggests that TAX1BP3 is essential for heart development.