title: [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
abstract: OBJECTIVE
  To identify the mutation gene of a Chinese family with ectopia lentis.
  
  
  METHODS
  Clinical observation and pedigree analysis were undertaken in a family with ectopia lentis. Venous blood was drawn from 7 affected and 3 unaffected subjects. Genomic DNA was extracted. Linkage to the fibrillin 1 (FBN1) locus was not excluded. Mutation of this gene was screened by PCR of FBN1 exons and direct sequencing. PCR and restrictive endonuclease digestion were applied for population study.
  
  
  RESULTS
  A missense mutation G640A in exon six of FBN1 gene was identified in affected patients of this Chinese family. The correspond amino acid change was Gly214Ser. Restrictive endonuclease site Eag I was eliminated. This mutation was not found in unaffected family members of this family nor it was found among 50 unrelated normal controls.
  
  
  CONCLUSIONS
  A novel mutation of FBN1 gene with Glycine to Serine change is responsible for the ectopia lentis patients in a Chinese family.
authors.affiliation: Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Eye Research Center of Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Sui
authors.forename: Hong-bin
authors.initials: HB
authors.lastname: Wei
authors.forename: Jia-liang
authors.initials: JL
authors.lastname: Zhao
authors.forename: Shao-yi
authors.initials: SY
authors.lastname: Hu
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.forename: Shang-zhi
authors.initials: SZ
authors.lastname: Huang
authors.forename: Ming
authors.initials: M
authors.lastname: Dong
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D004479:Ectopia Lentis / Q000209:etiology / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines