Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report
Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report
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DOI：
10.1097/md.0000000000036977
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发表时间：
2024-02-02
期刊：
影响因子：
1.6
通讯作者：
An，Caiyan
中科院分区：
文献类型：
--
作者：
Chang，Li;Ji，Renhui;An，Caiyan
Rationale: Congenital heart disease (CHD) is the most common birth defect and an important cause of noninfectious deaths in infants and children. It has high prevalence globally, placing an enormous burden on society and families. Studies of individuals with hereditary or sporadic CHD have provided strong evidence for its genetic basis. The aim of this study was to identify causative gene variants in a Chinese family with congenital heart disease.Patient concerns and diagnoses: Three generations of a CHD family were recruited. Proband III. 9 was diagnosed with congenital heart disease at age 11 months, and the echocardiogram showed arterial ductus arteriosus, with a left-to-right shunt at the level of the arteries. Precedent III. 10 was a twin of Proband III. 9 who was diagnosed with congenital heart disease at age 11 months, in whom the echocardiogram revealed an arterial ductus arteriosus, an unenclosed patent ductus arteriosus, and a left to right shunt at the level of the arteries (second figure). III. 8 was diagnosed with congenital heart disease at age 15, but echocardiography in this study showed no abnormalities. No cardiac abnormalities were detected in any of his parents, grandparents, or maternal grandparents. We performed whole-exome sequencing on CHD sufferers and their unexpressing family members to investigate the genetic causes of CHD in this family line. Exome sequencing identified 4 mutation sites in this family line. The variant c. 3245A> G (p. His1082Arg) of the AMER1 gene was consistent with concomitant X-chromosome recessive inheritance, the variant c. 238G> C (p. Val80Leu) of the KCNE1 gene was consistent with autosomal accessory inheritance, and the other 2 variants did not conform to the law of the mode of inheritance of the disease.
