Muyu Qi1,#, Xiaoping Lan2,#, Jia Li1, Junwen Ge1, Li Shen1,*, Rufang Zhang1,*
Congenital Heart Disease, Vol.16, No.5, pp. 487-498, 2021, DOI:10.32604/CHD.2021.015887
Abstract Objective: Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery. Therefore, defining a disease-causing gene
mutation in a pulmonary atresia family is a possible method of genetic counseling, future prenatal diagnosis,
and therapeutic approaches for pulmonary atresia. Methods: Blood samples were collected from six PA family
members, and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. Gene detection was performed using a second-generation sequencing gene panel. Results: Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the… More >
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