Diagnosis of Primary Ciliary Dyskinesia by the identification of homozygote mutation in CCDC40 gene with whole-exome sequencing in a 12 years old patient: a case report

Introduction: Primary Ciliary Dyskinesia (PCD) is a genetic disorder due to impairment or absence of cilia movements and leading to various problems such as chronic involvement of sinuses and lungs, chronic accommodation of fluid in middle ear, situs inversus and infertility. Prevalence of this disease among patients with chronic respiratory problems is near 5 percent. hereditation pattern is autosomal recessive and approximately 70% of these patients diagnosed by genetic test but the definite diagnostic measure is tracheal mucosa biopsy and assessment by electronic microscope that is not easily applicable.Case presentation: We introduce a 12 years old male patient with PCD from a consanguineous Iranian family who had respiratory distress in his neonatal period and nasal congestion from beginning days of life and also had many admissions from infancy because of respiratory infections. His sweat tests were borderline, 62 and 70, but the genetic test for cystic fibrosis was negative and he had not any pancreatic insufficiency infavour of cystic fibrosis. Immunodeficiency profile assessment was performed and was negative. Finally we ordered him Whole Exome Sequencing to evaluation of PCD and founded that he had a mutation in CCDC40 gene on 17q25.3 location that codes inner dynein of cilia and so this mutation is responsible for ciliary dysfunction and impairment of mucociliary clearance.Conclusion: Our study emphasizes that whole exome sequencing could achieve rapid diagnosis and identification of pathogenic mutations in patients with PCD.

کلیدواژه ها:

primary ciliary dyskinesia ، whole exome sequencing ، mucociliary clearance impairment.