ABSTRACT
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi-allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North-African patients. This mutation is estimated to date back at least 1,400-1,750 years ago. The identification of this major allele allowed us to suggest a cost-effective genetic diagnostic strategy in North-African patients with PCD.
Subject(s)
Dyneins/genetics , Genetic Predisposition to Disease , Kartagener Syndrome/epidemiology , Kartagener Syndrome/genetics , Mutation , Population Surveillance , Alleles , Amino Acid Substitution , Exons , Female , Genotype , Humans , Kartagener Syndrome/diagnosis , Male , Tunisia/epidemiologyABSTRACT
The staphylococcal pneumonia is the prerogative of the infant but rare cases were observed in the childhood. We report the observation of two children aged respectively of six years and three years and a half having presented a particular form of severe staphylococcal pneumonia apart from any context of immunodepression. The identification of the particular strains producing toxins Like the Panton and Valentine leukocidin constitutes the first stage of the comprehension of this atypical form of pneumonia. Through these observations and with a review of literature we underline the specific clinical and biological aspects of this form.