Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Conference Papers Year : 2020

Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen.

Zohra Soua
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  • PersonId : 912535
Jihene Bouguila
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Lamia Boughamoura
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Salma Ben Ameur
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Mongia Hachicha
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Raoudha Boussoffara
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Khadija Boussetta
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Samia Ben Hammouda
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Abir Bedoui
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Habib Besbes
Seif Meddeb
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Karima Chraeit
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Monia Khlifa
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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.
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Dates and versions

inserm-03952243 , version 1 (23-01-2023)

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  • HAL Id : inserm-03952243 , version 1

Cite

Rahma Mani, Sabrina Belkacem, Zohra Soua, Sandra Chantot-Bastaraud, Guy Montantin, et al.. Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen.. Assises de Génétique Humaine et Médicale, Jan 2020, Tours (France), France. ⟨inserm-03952243⟩
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