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Genome-wide Gene Deletions in Streptococcus sanguinis by High Throughput PCR
Published on: November 23, 2012
A novel large deletion in CCM1 gene in a Tunisian family
F Tinsa1, I Bel Hadj2, F Riant3
1Department 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.
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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