Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 433-437, 2022.
Article
de Zh
| WPRIM
| ID: wpr-928436
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Dépistage génétique
/
Syndrome de Kartagener
/
Sensibilité et spécificité
/
Cils vibratiles
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites du sujet:
Humans
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2022
Type:
Article