title: A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.
abstract: Familial cerebral cavernous malformations (CCMs) are characterized by an autosomal dominant transmission with incomplete penetrance. We have previously reported a 1292delAT mutation in the CCM1 gene in a Chinese family with CCM. Here we report a novel deletion of CCM1 that correlates strongly with CCM formation in another family. Ten affected family members were observed among the 25 participants, and multiple CCM lesions were detected in seven individuals. Nucleotide sequencing analysis in the index patient and other affected members showed a CAAA deletion in exon 12 at nucleotide (NT) 1197. We predict this deletion produces a premature stop code (TGA) at NT 1228, resulting in a truncated protein of 409 amino acids.
authors.affiliation: Department of Neurosurgery, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, 12 Wulumuqi Zhong Road, Shanghai 200040, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
authors.forename: Liqian
authors.initials: L
authors.lastname: Xie
authors.forename: Peiliang
authors.initials: P
authors.lastname: Li
authors.forename: Jianping
authors.initials: J
authors.lastname: Song
authors.forename: Tianming
authors.initials: T
authors.lastname: Qu
authors.forename: Weiwei
authors.initials: W
authors.lastname: Fan
authors.forename: Hongyan
authors.initials: H
authors.lastname: Chen
authors.forename: Dan
authors.initials: D
authors.lastname: Chen
authors.forename: Daru
authors.initials: D
authors.lastname: Lu
authors.forename: Liangfu
authors.initials: L
authors.lastname: Zhou
authors.forename: Ying
authors.initials: Y
authors.lastname: Mao
mesh_terms: D001921:Brain / Q000473:pathology*; D005260:Female; D005838:Genotype; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins