A novel large deletion in CCM1 gene in a Tunisian family.

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. PMID: 30314744 [PubMed - as supplied by publisher]
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research