Article
Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.
American journal of medical genetics. Part A - 1 Oct 2022
Ye Yutian, Huang Qijun, Chen Lipeng, Yuan Fang, Liu Shengguo, Zhang Xiangxia, Chen Rongchang, Fu Yingyun, Yue Yongjian
Abstract excerpt
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...
Topics
- Asian People
- China
- Cilia
- Ciliary Motility Disorders
- Humans
- Kartagener Syndrome
- Mutation
- Exome Sequencing