A novel large deletion in CCM1 gene in a Tunisian family

F. Tinsa (1, 2, 3) , I. Bel Hadj (1, 2) , F. Riant (4) , M. Ben Romdhane (1, 2) , I. Brini (1) , E. Tournier-Lasserve (4, 5) , H. Louati (1) , S. Abdelhak (3) , S. Hamouda (1, 2) , K. Boussetta (1, 2)

1 Béchir Hamza Children's Hospital
2 UTM - Université de Tunis El Manar
3 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory
4 Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]
5 U1161 / UMR_S 1161 - Génétique et Physiopathologie des Maladies Cérébro-Vasculaires

Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.

Keywords: CCM1; Children; Familial cerebral cavernous malformation; KRIT1

Domains: Life Sciences [q-bio]

F. Tinsa, I. Bel Hadj, F. Riant, M. Ben Romdhane, I. Brini, et al.. A novel large deletion in CCM1 gene in a Tunisian family. Revue Neurologique, 2019, 175 (3), pp.194-197. ⟨10.1016/j.neurol.2018.04.013⟩. ⟨pasteur-01947926⟩