{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(5)"],"submitter":["Zhao X"],"pubmed_abstract":["<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 h"],"journal":["Translational pediatrics"],"pagination":["610-618"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7658766"],"repository":["biostudies-literature"],"pubmed_title":["An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve."],"pmcid":["PMC7658766"],"pubmed_authors":["Zheng J","Li Y","Xu M","Zhang Y","Xie L","Hou C","Xiao T","Zhao X","Jia J"],"additional_accession":[]},"is_claimable":false,"name":"An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.","description":"<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 h","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Oct","modification":"2025-04-19T23:40:11.022Z","creation":"2025-04-19T23:40:11.022Z"},"accession":"S-EPMC7658766","cross_references":{"pubmed":["33209723"],"doi":["10.21037/tp-20-81"]}}