The Expanding Genetic Diagnostic Approaches for Patients with Primary Ciliary Dyskinesia Beyond the Exome
10.12376/j.issn.2097-0501.2024.03.015
- VernacularTitle:原发性纤毛运动障碍患者外显子组测序阴性后的遗传诊断思路
- Author:
Yixuan LI
1
;
Miao HE
;
Haixia ZHENG
;
Yaping LIU
Author Information
1. 中国医学科学院基础医学研究所北京协和医学院基础学院麦库西克-张孝骞协和遗传医学中心疑难重症及罕见病全国重点实验室,北京 100005
- Keywords:
primary ciliary dyskinesia;
exome sequencing;
emerging genetic testing technologies;
genetic diagnostic rate
- From:
JOURNAL OF RARE DISEASES
2024;3(3):368-374
- CountryChina
- Language:Chinese
-
Abstract:
Primary ciliary dyskinesia(PCD)is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia.It is typically inherited in an autosomal recessive pattern.The disease affects multiple organs,and the variability in clinical phenotypes,along with genetic heterogeneity significantly complicates its diagnosis.Although the application of clinical exome sequencing has significantly improved the diagnostic rate of PCD,more than 30％of patients are still unable to obtain a definitive diagno-sis.This article reviews and discusses the pathogenesis,diagnostic methods,and expanding genetic diag-nostic approaches for patients with PCD that are negative for exome sequencing.The aim of this article is to assist clinicians in selecting more advanced emerging genetic testing technologies,with the hope of increasing the positive diagnostic rate of PCD,deepening the understanding of its genetic pathogenesis,and laying a foundation for the practice of gene therapy in the future.
