Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Hager Jaouadi (1, 2) , Sonia Chabrak (3) , Saida Lahbib (1) , Sonia Abdelhak (1) , Stéphane Zaffran (2)

1 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
3 UTM - Université de Tunis El Manar

Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.

Mots clés: CPVT; AGRN gene; Known gene-novel gene association; RPL3L gene; digenic inheritance

Domaines: Sciences du Vivant [q-bio]

Hager Jaouadi, Sonia Chabrak, Saida Lahbib, Sonia Abdelhak, Stéphane Zaffran. Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance. 2022. ⟨pasteur-03561412⟩