title: Familial cerebral cavernous angiomas: clinical and genetic features in a Chinese family with a frame-shift mutation in the CCM1 gene (krit1).
abstract: A few cases of cerebral cavernous malformation (CCM) have been reported in Chinese families with different mutations during the past decade. Herein, we report a case of CCM in a proband in a Chinese family, for whom the mutation type of the CCM remains to be identified. The proband of the family presented a range of clinical symptoms and features that included paralysis, aphasia, multiple lesions in the brain, and cutaneous capillary-venous malformations. PCR was performed to amplify all of the coding exons of the three CCM genes (CCM1, CCM2, and CCM3) in the proband and revealed a heterozygous T deletion in exon 15 (c.1542delT) of CCM1 gene. Targeted mutation analysis in family members demonstrated that this mutation segregated with the disease in the family. This is the first report of a heterozygous CCM1 deletion mutation. Our findings provide a new CCM gene mutation profile in a Chinese family which will be of significance in genetic counseling for CCM.
authors.affiliation: Department of Neurology, First Hospital, Jilin University, Changchun, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhu
authors.forename: Yingjie
authors.initials: Y
authors.lastname: Guo
authors.forename: Xuemin
authors.initials: X
authors.lastname: Feng
authors.forename: Rensheng
authors.initials: R
authors.lastname: Zhang
authors.forename: Chunkui
authors.initials: C
authors.lastname: Zhou
authors.forename: Guibo
authors.initials: G
authors.lastname: Li
authors.forename: Jingyao
authors.initials: J
authors.lastname: Liu
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins