TY - JOUR T1 - 家族性肺动脉高血压通过 KDR 功能JF的杂合损失 - 欧洲呼吸杂志JO - 欧洲呼吸j执行 - 10.1183 / 13993003.02165-2019 SP - 1902165 AU - Eyries，梅拉妮AU - Montani酒店大卫AU - Girerd，芭芭拉AU - Favrolt，萨科AU - Riou的，玛丽安娜AU - Faivre，劳伦斯AU - 马诺，格雷AU - 佩罗斯，弗雷德里克AU - 格拉夫，斯特凡AU - 莫雷尔，尼古拉斯W. AU - 亨伯特，马克·AU- Soubrier，弗洛朗Y1 - 2020年1月1日UR - //www.qdcxjkg.com/content/early/2020/01/03/13993003.02165-2019.abstract N2 - 背景除了主效基因BMPR2，一些新基因诱发多环芳香烃在过去十年中已经确定。近日，KDR基因参与了初步证据大型遗传关联study.Methods我们前瞻性分析通过有针对性的面板测序KDR基因的一系列311名PAH患者称为临床分子实验室PAH的基因诊断发现。结果两个指数的情况下与来自两个不同的家庭重度肺动脉高压被发现携带的基因KDR一个丧失功能的突变。这两个索引病例临床特征在于低扩散能力一氧化碳调整血红蛋白（DLCOc）和肺间质病。在一个家族，偏析分析显示，变体的载体或者与PAH具有低DLCOc相关联，或仅DLCOc降低，而非携带者亲属具有正常DLCOc呈递。在第二个家，一个受影响的载体还活着。他携带者母亲并没有受到影响正常DLCOc.Conclusion我们的考虑KDR如通过描述两个家庭KDR突变与PAH的分离中新发现的多环芳烃致癌基因提供的遗传证据。在我们的研究中，KDR突变与PAH的一种特殊形式的特点是低DLCOc和实质性肺病影像学证据，包括间质性肺疾病和手稿最近已经接受了在欧洲呼吸杂志出版emphysema.FootnotesThis相关。据审稿，并通过我们的制作团队排版之前在这里其已接受的形式出版。 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. 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. ER -