AI Article Synopsis
- Familial CCM is linked to mutations in three specific genes: CCM1, CCM2, and CCM3.
- A study documented a Tunisian family with six members, where three were affected by the condition, including the father and two daughters, while two others were healthy.
- Molecular testing revealed a significant deletion in the KRIT1 gene, which affects the first ten exons, marking the first report of such a large deletion in the literature.
Article 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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| http://dx.doi.org/10.1016/j.neurol.2018.04.013 | DOI Listing |
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