Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia.
10.3760/cma.j.cn511374-20201222-00898
- Author:
Lina WANG
1
;
Baoping XU
;
Liwei GAO
Author Information
1. Respiratory Medicine Department, Beijing Children' s Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children' s Health, Beijing 100045, China. xubaopingbch@163.com.
- Publication Type:Review
- MeSH:
Cilia/genetics*;
Genetic Testing;
Humans;
Kartagener Syndrome/genetics*;
Sensitivity and Specificity
- From:
Chinese Journal of Medical Genetics
2022;39(4):433-437
- CountryChina
- Language:Chinese
-
Abstract:
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than 40 genes have been associated with PCD, but most research have focused on common genes, which hinders our understanding of other rare PCD-genes. This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia, with an aim to provide a basis for early identification of such diseases.
