RT期刊文章SR电子T1家族性肺动脉高压KDRheterozygous loss of function JF European Respiratory Journal JO Eur Respir J FD 188bet官网地址European Respiratory Society SP 1902165 DO 10.1183/13993003.02165-2019 A1 Eyries, Mélanie A1 Montani, David A1 Girerd, Barbara A1 Favrolt, Nicolas A1 Riou, Marianne A1 Faivre, Laurence A1 Manaud, Grégoire A1 Perros, Frédéric A1 Gräf, Stefan A1 Morrell, Nicholas W. A1 Humbert, Marc A1 Soubrier, Florent YR 2020 UL //www.qdcxjkg.com/content/early/2020/01/03/13993003.02165-2019.ABSTRATS AB背景超出主要基因BMPR2，在过去的十年中已经确定了几种新的基因。最近，在一项大型遗传关联研究中发现了KDR基因参与的初步证据。方法是我们前瞻性地分析了KDR基因通过针对一系列的311名PAH患者的靶向小组测序分析了临床分子实验室，该临床分子实验室用于PAH的遗传诊断。结果发现，发现两个不同家族的严重PAH的指数病例在KDR基因中携带功能丧失突变。这两个指数病例在临床上的特征是针对血红蛋白（DLCOC）和间质性肺部疾病调节的一氧化碳的扩散能力低。在一个家族中，隔离分析表明，变异载体要么与低DLCOC相关，要么仅降低DLCOC，而非携带者相关的差异为正常的DLCOC。在第二个家庭中，一个受影响的承运人还活着。他的载体母亲不受正常的DLCOC的影响。判断我们为将KDR视为新近鉴定的PAH引起的基因而提供了遗传证据，通过描述两个家庭中PAH的KDR突变的隔离。在我们的研究中，KDR突变与一种特殊形式的PAH有关，其特征是dlcoc低的实质性肺部疾病的放射学证据，包括间质性肺疾病和肺气肿。它在我们的生产团队复制和排版之前以其公认的形式出版。在完成这些生产过程并批准了由此产生的证明之后，该文章将转移到最新的ERJ Online。请打开或下载PDF查看本文。兴趣相关：Eyries博士无需披露。兴趣：Montani博士报告Actelion的赠款和个人费用，拜耳的赠款和个人费用，来自GSK的个人费用，GSK的个人费用， personal fees from Pfizer, personal fees from MSD, outside the submitted work.Conflict of interest: Dr. GIRERD has nothing to disclose.Conflict of interest: Dr. FAVROLT has nothing to disclose.Conflict of interest: Dr. Riou has nothing to disclose.Conflict of interest: Dr. FAIVRE has nothing to disclose.Conflict of interest: Dr. Manaud has nothing to disclose.Conflict of interest: Dr. Perros has nothing to disclose.Conflict of interest: Dr. Gräf has nothing to disclose.Conflict of interest: Dr. Morrell reports personal fees from Morphogen-IX, outside the submitted work.Conflict of interest: Dr. Humbert reports personal fees from Acceleron, personal fees from Actelion, grants and personal fees from Bayer, grants and personal fees from GSK, personal fees from Merck, personal fees from United Therapeutics, outside the submitted work.Conflict of interest: Dr. SOUBRIER has nothing to disclose.