@Article {eyries1902165，作者= {eyries，m {\'e} Lanie和Montani，David和Girerd，Barbara和Favrolt，Nicolas和Riou，Marianne和Faivre，Laurence和Manaud，Gr {\'e} Gr {\'e}，{\'e} D {\'e} ric和gr {\“a} f，stefan和morrell，nicholas w.和humbert，marc和souberier，佛罗伦特}，标题= {家族性肺动脉高压Kdr杂合损失函数}，elocation-id = {1902165}，年= {2020}，DOI = {10.1183 / 13993003.02165-13993003.02165-2019}，出版商= {欧洲呼吸社会}188bet官网地址，摘要= {背景超出了主要基因BMPR2，几个新的基因易感性在过去十年中已经确定了Pah。最近，在大型遗传结合研究中发现了KDR基因参与的初步证据。我们在一系列311pah患者中，我们前瞻性地分析了靶向面板测序的KDR基因PAH的遗传诊断临床分子实验室。来自两种不同FAMI严重PAH的两种指标案例发现谎言在KDR基因中携带功能丧失。这两个指数案例在临床表征中，通过调整血红蛋白（DLCOC）和间质肺病调整的一氧化碳漫射能力。在一个家庭中，偏析分析显示，变体载体呈现与低DLCOC相关的PAH，或者仅降低DLCOC，而非载体亲属具有正常的DLCOC。在第二个家庭中，一名受影响的载体还活着。他的载体母亲不受正常的Dlcoc。结论我们提供了通过描述KDR突变在两个家庭中的PAH的分离作为新鉴定的PAH导致基因的基因证据。在我们的研究中，KDR突变与特定形式的PAH相关，其特征在于低DLCOC和实质肺病的放射性证据，包括间质性肺病和肺气肿。最近被接受在欧洲呼吸杂志上出版的。 It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr. EYRIES has nothing to disclose.Conflict of interest: Dr. MONTANI reports grants and personal fees from Actelion, grants and personal fees from Bayer, personal fees from GSK, 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. Gr{\"a}f 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.}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/early/2020/01/03/13993003.02165-2019}, eprint = {//www.qdcxjkg.com/content/early/2020/01/03/13993003.02165-2019.full.pdf}, journal = {European Respiratory Journal} }