title: A novel gene mutation (1292 deletion) in a Chinese family with cerebral cavernous malformations.
abstract: OBJECTIVE
  Hereditary cerebral cavernous malformations (CCMs) are characterized by focal abnormalities of small blood vessels in the brain and consequent hemorrhage and seizures. Previous studies of this type of CCM have mainly reported on this disorder in Hispanic and Caucasian cases. Here, we report on hereditary CCM in a Chinese family further characterized by a novel CCM1 gene mutation.
  
  
  METHODS
  We investigated a family of 21 members, of whom 3 died and 16 of the survivors became the subjects of this study by brain magnetic resonance imaging.
  
  
  RESULTS
  Brain magnetic resonance imaging demonstrated abnormal results in 11 members (69% penetrance), including multiple intracranial lesions in seven cases and single lesions in four cases. The clinical manifestation of CCM was found in these cases. The youngest patient was 4 years old. The remaining 5 members were normal. Nucleotide sequencing analysis of the family member representing the index case and other affected members revealed a deletion frameshift mutation of A and T at nucleotides 1292 and 1293 in exon 13 of the CCM1 gene, which resulted in truncated encoding Krev interaction trapped-1 protein.
  
  
  CONCLUSIONS
  Our results indicated a novel hereditary CCM1 gene mutation of 1292delAT, a finding that may contribute to the clarification of the mechanism of the disease.
authors.affiliation: Institution of Neurosurgery, Hua-Shan Hospital, FuDan University, Shanghai, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Mao
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
authors.forename: Liang-Fu
authors.initials: LF
authors.lastname: Zhou
authors.forename: Chuan-Xin
authors.initials: CX
authors.lastname: Huang
authors.forename: Xue-Fei
authors.initials: XF
authors.lastname: Shou
authors.forename: Jia-Lei
authors.initials: JL
authors.lastname: Gong
authors.forename: Michael T
authors.initials: MT
authors.lastname: Lawton
authors.forename: Guo-Yuan
authors.initials: GY
authors.lastname: Yang
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002490:Central Nervous System; D020785:Central Nervous System Vascular Malformations / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D009363:Neoplasm Proteins; C491643:NUPR1 protein, human