Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia

原发性睫状体运动障碍 外显子组测序 桑格测序 生物 遗传学 候选基因 医学遗传学 基因 表型 生物信息学 疾病基因鉴定 外显子组 DNA测序 生物信息学 医学 内科学 支气管扩张
作者
Yutian Ye,Qijun Huang,Lipeng Chen,Fang Yuan,Shengguo Liu,Xiangxia Zhang,Rongchang Chen,Yingyun Fu,Yongjian Yue
出处
期刊:American Journal of Medical Genetics [Wiley]
卷期号:188 (10): 3024-3031
标识
DOI:10.1002/ajmg.a.62912
摘要

The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for ~20%-35% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD-associated pathogenic candidate genes using whole-exome sequencing (WES). All patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy images of cilia. WES and bioinformatic analysis were then conducted on patients with PCD. Identified candidate variants were validated by Sanger sequencing. Pathogenicity of candidate variants was then evaluated using in silico software and the American College of Medical Genetics and Genomics (ACMG) database. In total, 13 rare variants were identified in patients with PCD, among which were three homozygous causative variants (including one splicing variant) in the PCD-associated genes CCDC40 and DNAI1. Moreover, two stop-gain heterozygous variants of DNAAF3 and DNAH1 were classified as pathogenic variants based on the ACMG criteria. This study identified novel potential pathogenic genetic factors associated with PCD. Noteworthy, the patients with PCD carried multiple rare causative gene variants, thereby suggesting that known causative genes along with other functional genes should be considered for such heterogeneous genetic disorders.
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