[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
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.
Sui
Rui-fang
RF
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Eye Research Center of Chinese Academy of Medical Sciences, Beijing 100730, China.
Wei
Hong-bin
HB
Zhao
Jia-liang
JL
Hu
Shao-yi
SY
Wang
Bo
B
Huang
Shang-zhi
SZ
Dong
Ming
M
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines