biostudies-literatureUnknown9(5)Zhao X<h4>Background</h4>Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.<h4>Methods</h4>Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode of inheritance through bioinformatics tools were undertook to identify the possible disease-causing mutation.<h4>Results</h4>A heterozygous Ala58Val mutation in Myosin binding protein C (Mybpc3) was identified out of 2,840 variants in an 11-year-old female patient. The proband and her father were confirmed to be hTranslational pediatrics610-618https://www.ebi.ac.uk/biostudies/studies/S-EPMC7658766biostudies-literatureAn interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.PMC7658766Zheng JLi YXu MZhang YXie LHou CXiao TZhao XJia JfalseAn interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.<h4>Background</h4>Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.<h4>Methods</h4>Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode of inheritance through bioinformatics tools were undertook to identify the possible disease-causing mutation.<h4>Results</h4>A heterozygous Ala58Val mutation in Myosin binding protein C (Mybpc3) was identified out of 2,840 variants in an 11-year-old female patient. The proband and her father were confirmed to be h2020-01-01T00:00:00Z2020 Oct2025-04-19T23:40:11.022Z2025-04-19T23:40:11.022ZS-EPMC76587663320972310.21037/tp-20-81