A novel large deletion in CCM1 gene in a Tunisian family

F Tinsa; I Bel Hadj; F Riant; M Ben Romdhane; I Brini; E Tournier-Lasserve; H Louati; S Abdelhak; S Hamouda; K Boussetta

doi:10.1016/j.neurol.2018.04.013

A novel large deletion in CCM1 gene in a Tunisian family

Rev Neurol (Paris). 2019 Mar;175(3):194-197. doi: 10.1016/j.neurol.2018.04.013. Epub 2018 Oct 9.

Authors

F Tinsa¹, I Bel Hadj², F Riant³, M Ben Romdhane², I Brini⁴, E Tournier-Lasserve⁵, H Louati⁶, S Abdelhak⁷, S Hamouda², K Boussetta²

Affiliations

¹ 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, Tunisia. Electronic address: tinsafaten@gmail.com.
² 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.
³ 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.
⁴ Department of pediatrics B, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary Bab Saadoun, Tunis, Tunisia.
⁵ 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; Inserm UMR-S1161, génétique et physiopathologie des maladies cérébro-vasculaires, 75010 Paris, France.
⁶ Department of pediatric radiology, children's hospital Bechir Hamza, boulevrad 9 avril, 1007 Jabbary, Bab Saadoun, Tunis, Tunisia.
⁷ Laboratory of biomedical genomics and oncogenetics (LR11IPT05), university of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.

PMID: 30314744
DOI: 10.1016/j.neurol.2018.04.013

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.

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

Publication types

Case Reports

MeSH terms

Adolescent
Child, Preschool
Consanguinity
Family
Female
Gene Deletion*
Hemangioma, Cavernous, Central Nervous System / diagnosis
Hemangioma, Cavernous, Central Nervous System / genetics*
Hemangioma, Cavernous, Central Nervous System / pathology
Humans
KRIT1 Protein / genetics*
Magnetic Resonance Imaging
Male
Middle Aged
Tunisia

Substances

KRIT1 Protein
KRIT1 protein, human