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R. Sui, H. Wei, J. Zhao, S. Hu, B. Wang, S. Huang; Novel Mutation of FBN1 Gene CauseEctopia Lentis in a Chinese Family . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2470.
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Purpose: To investigate the genetic abnormality of a four generation Chinese family with ectopia lentis. Methods: The clinical studies was undertaken in the family. Venous blood was drawn from 7 affected and 3 unaffected subjects. Linkage to the FBN1 locus was not excluded. Mutation was screened by PCR, direct sequencing and restrictive endonuclease digestion. Results: A novel missense mutation g640a (G214S) in exon six of FBN1 fene was identified in this Chinese family. Restrictive endonuclease site EagI was eliminated by the nucleotide change. Conclusions: This is the first report of this FBN1 mutation in Chinese ectopia lentis patients.
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