title: [A novel Krit-1 mutation in Han family with cerebral cavernous malformation].
abstract: OBJECTIVE
  To detect the mutations of Krit-1 gene that cause familial cerebral cavernous malformation (CCM) in the Han ethnic origin.
  
  
  METHODS
  The subjects were hospitalized in the Department of Neurosurgery, Tiantan Hospital affiliated to Capital University of Medical Sciences. Two families (A and B) and 8 apparently sporadic individuals affected with CCM were screened for mutations of Krit-1 gene. Members of the family CCM have a wide range in age of onset with seizures, headaches and skin lesions. The gene was screened by PCR amplification of 16 exons and mutation was detected by direct sequencing.
  
  
  RESULTS
  In family A samples, analysis of the Krit-1 gene revealed a new point mutation in exon 14 [a heterozygous C to G transition at nucleotide 1 289 (counting from the start codon or nt 2 308 counting from the first nt of the mRNA, aligned according to Gene Bank AF388384)] which predicts the substitution of a premature termination codon for Serine at codon 430 (S430X), belonging a nonsense point mutation. No mutation was identified in one of family A members as well as in any of the sporadic individuals with the exception of a single nucleotide polymorphism.
  
  
  CONCLUSIONS
  Report the first family in the Han with CCM having a novel mutation in the CCM1 gene on the continent of Asia. The newly identified mutation creates a premature termination codon and is predicted to produce a truncated Krev1 interaction-trapped 1 protein, KRIT1. This result allows efficient presymptomatic molecular diagnosis.
authors.affiliation: Department of Neurosurgery, Tiantan Hospital Affiliated to Capital University of Medical Sciences, Beijing 100050, China.
authors.forename: Yu-lun
authors.initials: YL
authors.lastname: Xu
authors.forename: Ji-zong
authors.initials: JZ
authors.lastname: Zhao
authors.forename: Bing-quan
authors.initials: BQ
authors.lastname: Wu
authors.forename: Hao-hao
authors.initials: HH
authors.lastname: Zhong
authors.forename: Shuo
authors.initials: S
authors.lastname: Wang
authors.forename: Wan-jie
authors.initials: WJ
authors.lastname: Heng
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins