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Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele
Author(s) -
Mani Rahma,
Belkacem Sabrina,
Soua Zohra,
Chantot Sandra,
Montantin Guy,
Tissier Sylvie,
Copin Bruno,
Bouguila Jihene,
Rive Le Gouard Nicolas,
Boughamoura Lamia,
Ben Ameur Salma,
Hachicha Mongia,
Boussoffara Raoudha,
Boussetta Khadija,
Hammouda Samia,
Bedoui Abir,
Besbes Habib,
Meddeb Seif,
Chraeit Karima,
Khlifa Monia,
Escudier Estelle,
Amselem Serge,
Mabrouk Imed,
Legendre Marie
Publication year - 2020
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23905
Subject(s) - primary ciliary dyskinesia , biology , genetics , allele , proband , motile cilium , dyskinesia , genotype , single nucleotide polymorphism , allele frequency , gene , mutation , genetic heterogeneity , cilium , cohort , founder effect , disease , haplotype , medicine , bronchiectasis , phenotype , parkinson's disease , lung
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.