【摘 要】
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Background: Congenital heart disease (CHD) is the most common birth defects, which is the top one defect in China.But the genetic etiology of sporadic CHD remains poorly understood.Methods: In our stu
【机 构】
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Key Laboratory of Molecular Medicine,Ministry of Education,Department of Biochemistry and Molecular
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
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Background: Congenital heart disease (CHD) is the most common birth defects, which is the top one defect in China.But the genetic etiology of sporadic CHD remains poorly understood.Methods: In our study, 20 CHD patients genomic DNA samples were performed whole-exome next generation sequencing, genotyping and copy number variation data were acquired as a parallel analysis and for mapping control and excluding genomic copy number variation.A novel mutation was found in a new candidate gene, WDR62, from WES.And three more mutations were found in the other patients after detecting the coding region of WDR62 by Sanger sequencing.
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