Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.
Ehsan RazmaraMasoud GarshasbiPublished in: BMC cardiovascular disorders (2018)
Our study represents the first case of Sinus venosus defect caused directly by MYH6 stop codon mutation. Our data indicate that by increase haploinsufficiency of myosin VI, c.3835C > T mutation with reduced penetrance could be associated with CHD.