1. Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen
- Author
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Mani, Rahma, Belkacem, Sabrina, Soua, Zohra, Chantot-Bastaraud, 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 Ben, Bedoui, Abir, Besbes, Habib, Meddeb, Seif, Chraeit, Karima, Khlifa, Monia, Escudier, Estelle, Amselem, Serge, Mabrouk, Imed, Legendre, Marie, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Faculté de médecine de Sousse [Ibn EL Jazzar], UF de Génétique chromosomique [CHU Trousseau], and Couvet, Sandrine
- Subjects
[SDV] Life Sciences [q-bio] ,CCDC39 ,founder effect ,Kartagener syndrome ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,[SDV]Life Sciences [q-bio] ,cilia ,primary ciliary dyskinesia ,[SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract - Abstract
National audience; 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.
- Published
- 2020