May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Novel Mutation of FBN1 Gene CauseEctopia Lentis in a Chinese Family
R. Sui; H. Wei; J. Zhao; S. Hu; B. Wang; S. Huang
Author Affiliations & Notes
  • R. Sui
    Ophthalmology, Peking Union Med Coll, Beijing, China
  • H. Wei
    Ophthalmology, 252 Hospital, Baoding, China
  • J. Zhao
    Ophthalmology, Peking Union Med Coll, Beijing, China
  • S. Hu
    Medical genetics, Peking Union Medical College, Beijing, China
  • B. Wang
    Ophthalmology, 252 Hospital, Baoding, China
  • S. Huang
    Medical genetics, Peking Union Medical College, Beijing, China
  • Footnotes
    Commercial Relationships  R. Sui, None; H. Wei, None; J. Zhao, None; S. Hu, None; B. Wang, None; S. Huang, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 2470. doi:
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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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Abstract

Abstract: : 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.

Keywords: genetics • mutations • linkage analysis 
© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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