一个新的 CCM1 基因大片段缺失突变存在于一个突尼斯家族中。
A novel large deletion in CCM1 gene in a Tunisian family.
机构信息
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.
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.
出版信息
Rev Neurol (Paris). 2019 Mar;175(3):194-197. doi: 10.1016/j.neurol.2018.04.013. Epub 2018 Oct 9.
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.
家族性 CCM 是一种罕见的疾病，与三个基因的突变有关：CCM1（KRIT1）、CCM2（MGC4607）和 CCM3（PDCD10）。我们在这里报告了首例由六名成员组成的突尼斯家族性 CCMs 的描述。父亲和两个女儿受到影响并出现症状。另外两个家族成员是健康的。只有一名受影响的患者接受了手术治疗。KRIT1、MGC4607 和 PDCD10 基因的分子分析确定了 KRIT1 的前十个外显子的大片段缺失。据我们所知，这种大片段缺失以前从未报道过。
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