Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

ABSTRACT:

Background

It is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late or missed, often due to the lack of a "gold standard" diagnostic tool and non-specific symptoms. Mutations in > 50 genes account for around 70% of cases, with additional genes, and non-coding, synonymous, missense changes or structural variants (SVs) in known genes presumed to account for the missing heritability.

Methods

UK patients with no identified genetic confirma

SUBMITTER: Wheway G 

PROVIDER: S-EPMC8461892 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature