Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations.

Results

A total of 26 individuals of Chinese

SUBMITTER: Zhao X 

PROVIDER: S-EPMC8252271 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature