Ty -jour t1-拓扑数据分析揭示了原发性睫状运动障碍JF的基因型 - 表型关系 - 欧洲呼吸杂志Rubbo，Bruna au -Legendre，Marie au -Fassad，Mahmoud R. Au -Haarman，Eric G. Au-最好，Sunayna Au -Bon -Bon，Irma C.M.Au -Brandsma，Joost au -Burgel，Pierre -regis au -Carlsson，Gunnar Au -Carr，Siobhan B. Au -Carroll，Carroll，Mary Au -Au -Edwards，Matt Au -Escudier，Estelle Au -Honoré -Honoré，Isabelle Au -Hunt，David Au，David Au，David Au，David Au -au -david-Jouvion，Gregory Au -Loebinger，Michel R.Au -Maitre，Maitre，Bernard Au -Morris -Rosendahl，Deborah Au -Papon，Jean -Francois Au- Parsons，Camille M. Au -Au -Patel -Patel，Mitali P.Au -P.Au -Thomas -Thomas，N。N. N. N.Simon Au -Thouvenin，Guillaume au -Walker，Woolf T. Au- Wilson，Robert Au -Hogg，Claire Au -Mitchison，Hannah M.Au -Lucas，Jane S. Y1- 2021/08/01 UR- HTTP -HTTP：// HTTP：//www.qdcxjkg.com/content/58/2/2/2002359.Abstract N2-背景原发性睫状运动障碍（PCD）是由大约50个纤毛相关基因突变引起的异质遗传疾病。PCD基因型 - 表型关系主要是由小病例系列引起的，因为现有的研究关系的统计方法不适合稀有疾病。方法我们应用了拓扑数据分析（TDA）方法来研究PCD中的基因型 - 苯型关系。来自单独的训练和验证队列的数据包括396个遗传定义的个体，这些个体携带PCD基因中的致病变异。为了开发TDA模型，包括12个临床和诊断变量。随后使用传统统计数据对TDA驱动的假设进行了测试。在1 s（FEV1）Z分数中通过强迫呼气量测量的诊断时的疾病严重程度在CCDC39突变（与其他基因突变相比）中明显较差，并且在其他基因突变中更好地差。 those with DNAH11 mutations; the latter also reported less neonatal respiratory distress. Patients without neonatal respiratory distress had better preserved FEV1 at diagnosis. Individuals with DNAH5 mutations were phenotypically diverse. Cilia ultrastructure and beat pattern defects correlated closely to specific causative gene groups, confirming these tests can be used to support a genetic diagnosis.Conclusions This large scale, multi-national study presents PCD as a syndrome with overlapping symptoms and variations in phenotype according to genotype. TDA modelling confirmed genotype–phenotype relationships reported by smaller studies (e.g. FEV1 worse with CCDC39 mutation) and identified new relationships, including FEV1 preservation with DNAH11 mutations and diversity of severity with DNAH5 mutations.Topological data analysis of 396 primary ciliary dyskinesia patients shows genetic mutations of worse (CCDC39), variable (DNAH5) and milder (DNAH11) effects on lung function, offering the potential for more accurately targeted disease management https://bit.ly/3oL5r64 ER -