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A novel large deletion in CCM1 gene in a Tunisian family.
Tinsa, F; Bel Hadj, I; Riant, F; Ben Romdhane, M; Brini, I; Tournier-Lasserve, E; Louati, H; Abdelhak, S; Hamouda, S; Boussetta, K.
Afiliação
  • Tinsa F; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia; University of medicine, Tunis El Manar, Tunisia; Laboratory of biomedical genomics and oncogenetics (LR11IPT05), university of Tunis El Manar, Pasteur Institut of Tunis, Tunis,
  • Bel Hadj I; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia; University of medicine, Tunis El Manar, Tunisia.
  • Riant F; Service de génétique moléculaire neurovasculaire, centre de référence des maladies vasculaires rares du cerveau et de l'oeil (CERVCO), AP-HP, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France.
  • Ben Romdhane M; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia; University of medicine, Tunis El Manar, Tunisia.
  • Brini I; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia.
  • Tournier-Lasserve E; Service de génétique moléculaire neurovasculaire, centre de référence des maladies vasculaires rares du cerveau et de l'oeil (CERVCO), AP-HP, groupe hospitalier Saint-Louis Lariboisière-Fernand-Widal, 75010 Paris, France; UMR-S1161, université Paris-Diderot, Sorbonne-Paris-Cité, 75010 Paris, France;
  • Louati H; Department of pediatric radiology, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary, Bab Saadoun, Tunis, Tunisia.
  • Abdelhak S; Laboratory of biomedical genomics and oncogenetics (LR11IPT05), university of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Hamouda S; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia; University of medicine, Tunis El Manar, Tunisia.
  • Boussetta K; Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia; University of medicine, Tunis El Manar, Tunisia.
Rev Neurol (Paris) ; 175(3): 194-197, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30314744
ABSTRACT
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção de Genes / Hemangioma Cavernoso do Sistema Nervoso Central / Proteína KRIT1 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção de Genes / Hemangioma Cavernoso do Sistema Nervoso Central / Proteína KRIT1 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2019 Tipo de documento: Article