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Exome Sequence Analysis of 14 Families With High Myopia.

Publication ,  Journal Article
Kloss, BA; Tompson, SW; Whisenhunt, KN; Quow, KL; Huang, SJ; Pavelec, DM; Rosenberg, T; Young, TL
Published in: Invest Ophthalmol Vis Sci
April 1, 2017

PURPOSE: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. METHODS: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in additional family members. Candidate genes and chromosomal loci previously associated with myopic refractive error and its endophenotypes were comprehensively screened. RESULTS: In 14 high myopia families, we identified 73 rare and 31 novel gene variants as candidates for pathogenicity. In seven of these families, two of the novel and eight of the rare variants were within known myopia loci. A total of 104 heterozygous nonsynonymous rare variants in 104 genes were identified in 10 out of 14 probands. Each variant cosegregated with affection status. No rare variants were identified in genes known to cause myopia or in genes closest to published genome-wide association study association signals for refractive error or its endophenotypes. CONCLUSIONS: Whole exome sequencing was performed to determine gene variants implicated in the pathogenesis of AD high myopia. This study provides new genes for consideration in the pathogenesis of high myopia, and may aid in the development of genetic profiling of those at greatest risk for attendant ocular morbidities of this disorder.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

April 1, 2017

Volume

58

Issue

4

Start / End Page

1982 / 1990

Location

United States

Related Subject Headings

  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Mutation
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Female
  • Eye Proteins
 

Citation

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Kloss, B. A., Tompson, S. W., Whisenhunt, K. N., Quow, K. L., Huang, S. J., Pavelec, D. M., … Young, T. L. (2017). Exome Sequence Analysis of 14 Families With High Myopia. Invest Ophthalmol Vis Sci, 58(4), 1982–1990. https://doi.org/10.1167/iovs.16-20883
Kloss, Bethany A., Stuart W. Tompson, Kristina N. Whisenhunt, Krystina L. Quow, Samuel J. Huang, Derek M. Pavelec, Thomas Rosenberg, and Terri L. Young. “Exome Sequence Analysis of 14 Families With High Myopia.Invest Ophthalmol Vis Sci 58, no. 4 (April 1, 2017): 1982–90. https://doi.org/10.1167/iovs.16-20883.
Kloss BA, Tompson SW, Whisenhunt KN, Quow KL, Huang SJ, Pavelec DM, et al. Exome Sequence Analysis of 14 Families With High Myopia. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):1982–90.
Kloss, Bethany A., et al. “Exome Sequence Analysis of 14 Families With High Myopia.Invest Ophthalmol Vis Sci, vol. 58, no. 4, Apr. 2017, pp. 1982–90. Pubmed, doi:10.1167/iovs.16-20883.
Kloss BA, Tompson SW, Whisenhunt KN, Quow KL, Huang SJ, Pavelec DM, Rosenberg T, Young TL. Exome Sequence Analysis of 14 Families With High Myopia. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):1982–1990.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

April 1, 2017

Volume

58

Issue

4

Start / End Page

1982 / 1990

Location

United States

Related Subject Headings

  • Pedigree
  • Ophthalmology & Optometry
  • Myopia
  • Mutation
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Female
  • Eye Proteins