Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.

ABSTRACT: Background/Objectives: Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with a high prevalence in Turkey due to a high rate of consanguinity. The disorder is caused by malfunctioning motile cilia and is characterized by a variety of clinical symptoms including sinusitis, otitis media and chronic obstructive pulmonary disease. This study presents the first assessment of the efficacy of immunofluorescence (IF) labeling for diagnosing PCD in Turkey by correlating IF with clinical observations when genetic data are scarce. Methods: We have a cohort of 54 PCD-suspected individuals with an age range of 5-27 years classified into two groups: group A with available genomic data (8 individuals) and group B with no available genomic data (46 individuals).

SUBMITTER: Karakoc E 

PROVIDER: S-EPMC11942966 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature