Document Type : Protocol
Authors
1
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2
Department of Pediatrics, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
4
Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Abstract
Background: Primary ciliary dyskinesia (PCD) is a rare inherited disorder caused by abnormalities of motile cilia and is characterized by marked genetic heterogeneity. Although pathogenic variants in more than 60 genes have been associated with PCD, their distribution varies considerably among populations. This review will assess the reported genetic spectrum of PCD in Iran and the available evidence on genotype–phenotype relationships.
Methods: A systematic search will be performed in PubMed/MEDLINE, Scopus, Web of Science, Embase, and relevant Iranian databases. Studies reporting Iranian patients with PCD and genetic findings will be eligible, including case reports, case series, and observational studies. Information on patient characteristics, clinical manifestations, diagnostic methods, affected genes, genetic variants, zygosity, inheritance patterns, and genotype–phenotype associations will be extracted. The methodological quality of case reports and case series will be assessed using the Joanna Briggs Institute critical appraisal tools. The Newcastle–Ottawa Scale will be used for eligible cohort and case-control studies.
Results: The review will describe the genes and pathogenic variants reported in Iranian patients with PCD, with particular attention to recurrent variants and reported genotype–phenotype associations. Where sufficient information is available, genetic findings will be examined in relation to clinical and demographic characteristics.
Conclusion: This systematic review will provide a comprehensive summary of the currently available evidence on the genetic spectrum of PCD in Iranian patients. The findings may help identify recurrent variants, improve molecular diagnostic approaches, support genetic counseling, and highlight priorities for future genetic research in Iran.
Keywords
Journal of Integrated Maternal and Pediatric Care