山西医科大学学报2025，Vol.56Issue(6)：650-654,5.DOI:10.13753/j.issn.1007-6611.2025.06.009
一个肺动脉高压家系BMPR2基因遗传变异分析
Analysis of genetic variation in family with BMPR2 gene variants and pulmonary arterial hypertension
陈志瑞 1白燕 2苗世忠 3苗红兵 3邓展进 4成一娟 1李建伟 5周永安6
作者信息
- 1. 晋城合聚心脑血管病医院检验科,晋城 048000
- 2. 山西医科大学第二临床医学院
- 3. 晋城合聚心脑血管病医院心血管内科
- 4. 山西医科大学第二医院神经内科
- 5. 山西省心血管医院中心实验室
- 6. 山西医科大学第二医院输血科||山西医科大学男科生殖医学中心
- 折叠
摘要
Abstract
Objective To perform genetic testing and analysis of a family with pulmonary arterial hypertension,and explore the mo-lecular mechanisms and potential genetic causes.Methods Clinical data of patients with PAH family were collected.Peripheral blood DNA of the proband and their family members was extracted to perform whole exome sequencing(WES)for screening pathoge-nicity-related genes.Sanger sequencing was applied to validate the variant loci and analyze the co-segregation of the family.Results The proband had heterozygous variant c.248-1G>A in the BMPR2 gene,and neither of his parents carried the mutation confirmed by Sanger sequencing,suggesting a de novo mutation.Bioinformatics analysis supported the possible pathogenicity of this variant(PVS1+PS2_Moderate+PM2_Supporting+PP3).Conclusion The c.248-1G>A mutation in the BMPR2 gene may be the causative agent of this PAH family line,and this mutation site has not been reported.关键词
肺动脉高压/BMPR2基因/剪接突变/全外显子测序/Sanger测序/显性遗传Key words
pulmonary arterial hypertension/BMPR2 gene/Splice mutation/whole exome sequencing/Sanger sequenc-ing/dominant inheritance分类
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陈志瑞,白燕,苗世忠,苗红兵,邓展进,成一娟,李建伟,周永安..一个肺动脉高压家系BMPR2基因遗传变异分析[J].山西医科大学学报,2025,56(6):650-654,5.
