Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

ABSTRACT:

Background

Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and laterality defects. Given overlapping clinical features and genetic heterogeneity, diagnosis can be difficult and often occurs late. Of those tested an estimated 30% of genetically screened PCD patients still lack a molecular diagnosis. A molecular diagnosis allows for appropriate clinical management including prediction of phenotypic features correlated to genotype. Here, we aimed to identify how readily a genetic diagnosis could be made using whole genome sequencing (WGS) to facilitate identification of path

SUBMITTER: Black HA 

PROVIDER: S-EPMC11600997 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature