RT期刊文章SR电子T1扩大遗传肺动脉高压突变的景观在儿科和成人病例摩根富林明欧洲呼吸杂志乔和J FD欧元欧洲呼吸学会SP 1801371 10.1183/13993003.01371 -2018签证官53是3 A1梅勒妮巢窝A1大卫Montani A1苏菲Nadaud A1芭芭拉Girerd A1 Marilyne利维A1 Arnaud布A1罗曼Tresorier A188bet官网地址1 Ari Chaouat A1文森特Cottin A1席琳Sanfiorenzo A1格雷戈勒Prevot A1马蒂娜Reynaud-Gaubert A1克莱尔德龙A1阿里Houeijeh A1 Karine阮A1佛罗伦萨Coulet A1 Damien帽子A1马克·亨伯特A1弗洛伦特·Soubrier年2019 UL //www.qdcxjkg.com/content/53/3/1801371.abstract AB背景遗传形式的肺动脉高血压(多环芳烃)和肺静脉阻塞疾病/肺毛细管haemangiomatosis (PVOD / PCH)偏离了肺组织病理学病变,临床和para-clinical表示,他们负责任的基因,和传播方式。因为BMPR2基因的识别家庭受到多环芳烃的影响,在几个其他基因突变被发现两种形式。这些新基因的变异格局还没有广为人知。方法建立下一代sequencing-based目标基因测序面板允许已知PAH基因和PVOD / PCH同时分析。基因分析是263年前瞻性地进行多环芳烃和PVOD / PCH病人(成人和儿科病例)。致病性突变结果确定在19.5%的零星的PAH患者(n = 180), 54.5%的家庭PAH患者和13.3%的PVOD / PCH病人。BMPR2是最常见的突变基因,其次是TBX4儿科和成人的多环芳烃。BMP9突变被发现在1.2%的成年PAH的病例。EIF2AK4 biallelic突变被限制PVOD / PCH。删除突变和预测功能丧失BMP10变体也发现了两个严重影响零星PAH女性患者。Conclusion Our results confirm that mutations are found in genes beyond BMPR2 in heritable PAH, emphasise the role of TBX4 and BMP9, and designate BMP10 as a new PAH gene.Gene panel sequencing unravels the genetic architecture of pulmonary hypertension in adult and paediatric cases, emphasises the importance of BMPR2, EIF2AK4, BMP9 and TBX4 mutations, and suggests BMP10 as a new gene for the disease http://ow.ly/Oxes30mXnrI