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CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Publication ,  Journal Article
Lim, S-H; Tran-Viet, K-N; Yanovitch, TL; Freedman, SF; Klemm, T; Call, W; Powell, C; Ravichandran, A; Metlapally, R; Nading, EB; Rozen, S; Young, TL
Published in: Am J Ophthalmol
March 2013

PURPOSE: To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN: Retrospective case-control study. METHODS: Fifty-seven primary congenital glaucoma patients (47 families), 71 unaffected family members of the primary congenital glaucoma probands, and 101 healthy unrelated individuals were recruited from a single institution. Sanger sequencing of the primary congenital glaucoma gene, CYP1B1, was performed on 47 proband deoxyribonucleic acid samples. Simultaneously, whole exome sequencing was conducted on 3 families, each including more than 1 affected individual. Concurrently, 33 of 47 primary congenital glaucoma probands with extended family deoxyribonucleic acid samples were screened for LTBP2 and MYOC gene mutations. Exome-sequenced variations were validated by additional Sanger sequencing to confirm segregation of filtered disease-causing single nucleotide variations. RESULTS: Seven primary congenital glaucoma families (14.9%) manifested disease phenotypes attributable to CYP1B1 mutations. One primary congenital glaucoma family possessed homozygous mutant alleles, whereas 6 families carried compound heterozygous mutations. Five novel combinations of compound heterozygous mutations were identified, of which 2 combinations were found with whole exome sequencing. No disease-causing mutations within the LTBP2 and MYOC genes were discovered. CONCLUSIONS: This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing as a complementary tool to Sanger sequencing. Whole exome sequencing, coupled with Sanger sequencing, may identify novel genes in primary congenital glaucoma patients who have no mutations in known primary congenital glaucoma genes.

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Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

March 2013

Volume

155

Issue

3

Start / End Page

508 / 517.e5

Location

United States

Related Subject Headings

  • United States
  • Retrospective Studies
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Pedigree
  • Ophthalmology & Optometry
  • Mutation
  • Male
  • Latent TGF-beta Binding Proteins
  • Intraocular Pressure
 

Citation

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Lim, S.-H., Tran-Viet, K.-N., Yanovitch, T. L., Freedman, S. F., Klemm, T., Call, W., … Young, T. L. (2013). CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol, 155(3), 508-517.e5. https://doi.org/10.1016/j.ajo.2012.09.012
Lim, Sing-Hui, Khanh-Nhat Tran-Viet, Tammy L. Yanovitch, Sharon F. Freedman, Thomas Klemm, Whitney Call, Caldwell Powell, et al. “CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.Am J Ophthalmol 155, no. 3 (March 2013): 508-517.e5. https://doi.org/10.1016/j.ajo.2012.09.012.
Lim S-H, Tran-Viet K-N, Yanovitch TL, Freedman SF, Klemm T, Call W, et al. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 2013 Mar;155(3):508-517.e5.
Lim, Sing-Hui, et al. “CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.Am J Ophthalmol, vol. 155, no. 3, Mar. 2013, pp. 508-517.e5. Pubmed, doi:10.1016/j.ajo.2012.09.012.
Lim S-H, Tran-Viet K-N, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 2013 Mar;155(3):508-517.e5.
Journal cover image

Published In

Am J Ophthalmol

DOI

EISSN

1879-1891

Publication Date

March 2013

Volume

155

Issue

3

Start / End Page

508 / 517.e5

Location

United States

Related Subject Headings

  • United States
  • Retrospective Studies
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Pedigree
  • Ophthalmology & Optometry
  • Mutation
  • Male
  • Latent TGF-beta Binding Proteins
  • Intraocular Pressure