Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.

ABSTRACT:

Purpose

To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population.

Materials and methods

Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM).

Results

Overall, PCD was diagnosed in 10 (21.3%) patients: eight by WES (8/47, 17%), four by TEM. Among patients diagnosed as PCD based on TEM results, two patients showed consistent results with WES and TEM of PCD (2/4, 50%). In addition, five patients, who were not included in the final PCD diagnosis group, had variants of unknown signif

SUBMITTER: Oh J 

PROVIDER: S-EPMC10774650 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature