Abstract：
Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross-sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are reporting 67 patients here who had positive variant/s on WES. We had 117 variants in 40 genes among 67 patients. Among the 108 unique variants, 33 were categorized as pathogenic or likely pathogenic (P/LP). We had nine novel variants in out cohort. The 29 definite PCD cases, diagnosed by composite reference standards, had variants in 16 genes namely LRRC6/DNAAF11 (5), DNAH5 (3), CCDC39 (3), HYDIN (3), DNAH11 (2), CCDC40 (2), CCDC65 (2) and one each DNAAF3, DNAAF2, CFAP300, RPGR, CCDC103, CCDC114, SPAG1, DNAI1, and DNAH14. To conclude, we identified 108 unique variants in 40 genes among 67 patients. The common genes involved in definite cases of PCD in Indian patients were LRRC6, DNAH5, CCDC39, and HYDIN. Our findings suggest a need to develop a separate genetic panel for PCD in the Indian population.
摘要：
来自发展中国家的原发性纤毛运动障碍（PCD）的遗传特征数据有限。这里,我们报道了首个来自印度的疑似PCD患者的基因特征研究。在这项前瞻性横断面研究中，我们纳入了162名疑似PCD儿童.我们记录了临床特征,PCD的相关实验室测试并进行全外显子组测序（WES）。我们报告了67例WES变异阳性的患者。我们在67例患者中的40个基因中有117个变异。在108个独特的变体中，33人被归类为致病性或可能致病性（P/LP）。我们有9个新的变种。29例明确的PCD病例，通过复合参考标准诊断，在16个基因中有变异，即LRRC6/DNAAF11（5），DNAH5(3),CCDC39(3),HYDIN(3),DNAH11(2),CCDC40(2),CCDC65（2）和DNAAF3，DNAAF2，CFAP300，RPGR，CCDC103、CCDC114、SPAG1、DNAI1和DNAH14。最后，我们在67例患者中鉴定出40个基因中的108个独特变异.在印度患者中，与PCD明确病例有关的常见基因是LRRC6，DNAH5，CCDC39和HYDIN。我们的发现表明，需要在印度人口中开发一个单独的PCD遗传小组。
