May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Different Mutations in Carbohydrate Sulfotransferase 6 (CHST6) Gene Cause Macular Corneal Dystrophy Types I and II in a Single Sibship
N. Liu; W. Bao; C.F. Smith; J.M. Vance; G.K. Klintworth
Author Affiliations & Notes
  • N. Liu
    Ophthalmology, Beijing Tong Ren Hospital, Beijing, China
  • W. Bao
    Ophthalmology,
    Duke University Medical Center, Durham, NC
  • C.F. Smith
    Ophthalmology,
    Duke University Medical Center, Durham, NC
  • J.M. Vance
    Center for Human Genetics,
    Duke University Medical Center, Durham, NC
  • G.K. Klintworth
    Ophthalmology,
    Duke University Medical Center, Durham, NC
  • Footnotes
    Commercial Relationships  N. Liu, None; W. Bao, None; C.F. Smith, None; J.M. Vance, None; G.K. Klintworth, None.
  • Footnotes
    Support  NIH Grant EY08249
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 4929. doi:
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      N. Liu, W. Bao, C.F. Smith, J.M. Vance, G.K. Klintworth; Different Mutations in Carbohydrate Sulfotransferase 6 (CHST6) Gene Cause Macular Corneal Dystrophy Types I and II in a Single Sibship . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4929.

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Abstract

Abstract: : Purpose: The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II. Methods: The coding region of the CHST6 gene was examined for mutations. Results: One sibling with MCD type I was due to a homozygous C1110T (Arg140end) mutation in CHST6. Two MCD type II individuals exhibited three heterozygous nucleotide changes: C1110T, G1360A (Gly223Asp), and G1685T (Gln331His). Analysis of the upstream region was performed on one individual with MCD type II and no upstream deletion or substitution was found. Conclusions: These finding fit the haplotype analysis that we reported previously and indicates that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II.

Keywords: cornea: basic science • degenerations/dystrophies • genetics 
© 2005, 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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