Ji-Yang Zuo1,2, Huan-Xin Chen1,2, Zhi-Gang Liu1,2, Qin Yang1,2, Guo-Wei He1,2,*
Congenital Heart Disease, Vol.18, No.1, pp. 7-21, 2023, DOI:10.32604/chd.2022.025451
Abstract Background: Atrial septal defect (ASD) is one of the common congenital heart diseases. The MYH6 gene has a
critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been
explored. Methods: In 613 subjects including 320 ASD patients, we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. Results: Eleven variants were identified in the MYH6 gene promoter, of which four variants were found only
in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time.… More >
Graphic Abstract
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