Skip to main content
Journal cover image

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Publication ,  Journal Article
Tran-Viet, K-N; Powell, C; Barathi, VA; Klemm, T; Maurer-Stroh, S; Limviphuvadh, V; Soler, V; Ho, C; Yanovitch, T; Schneider, G; Li, Y-J ...
Published in: Am J Hum Genet
May 2, 2013

Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal detachment, and myopic maculopathy. Nonsyndromic, high-grade myopia is highly heritable, and to date multiple gene loci have been reported. We performed exome sequencing in 4 individuals from an 11-member family of European descent from the United States. Affected individuals had a mean dioptric spherical equivalent of -22.00 sphere. A premature stop codon mutation c.157C>T (p.Gln53*) cosegregating with disease was discovered within SCO2 that maps to chromosome 22q13.33. Subsequent analyses identified three additional mutations in three highly myopic unrelated individuals (c.341G>A, c.418G>A, and c.776C>T). To determine differential gene expression in a developmental mouse model, we induced myopia by applying a -15.00D lens over one eye. Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae. Immunohistochemistry in mouse eyes confirmed SCO2 protein localization in retina, retinal pigment epithelium, and sclera. SCO2 encodes for a copper homeostasis protein influential in mitochondrial cytochrome c oxidase activity. Copper deficiencies have been linked with photoreceptor loss and myopia with increased scleral wall elasticity. Retinal thinning has been reported with an SC02 variant. Human mutation identification with support from an induced myopic animal provides biological insights of myopic development.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

May 2, 2013

Volume

92

Issue

5

Start / End Page

820 / 826

Location

United States

Related Subject Headings

  • White People
  • United States
  • Sequence Analysis, DNA
  • RNA, Messenger
  • Point Mutation
  • Myopia
  • Molecular Sequence Data
  • Molecular Chaperones
  • Mitochondrial Proteins
  • Mice
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Tran-Viet, K.-N., Powell, C., Barathi, V. A., Klemm, T., Maurer-Stroh, S., Limviphuvadh, V., … Young, T. L. (2013). Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet, 92(5), 820–826. https://doi.org/10.1016/j.ajhg.2013.04.005
Tran-Viet, Khanh-Nhat, Caldwell Powell, Veluchamy A. Barathi, Thomas Klemm, Sebastian Maurer-Stroh, Vachiranee Limviphuvadh, Vincent Soler, et al. “Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.Am J Hum Genet 92, no. 5 (May 2, 2013): 820–26. https://doi.org/10.1016/j.ajhg.2013.04.005.
Tran-Viet K-N, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, et al. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet. 2013 May 2;92(5):820–6.
Tran-Viet, Khanh-Nhat, et al. “Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.Am J Hum Genet, vol. 92, no. 5, May 2013, pp. 820–26. Pubmed, doi:10.1016/j.ajhg.2013.04.005.
Tran-Viet K-N, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li Y-J, Nading E, Metlapally R, Saw S-M, Goh L, Rozen S, Young TL. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet. 2013 May 2;92(5):820–826.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

May 2, 2013

Volume

92

Issue

5

Start / End Page

820 / 826

Location

United States

Related Subject Headings

  • White People
  • United States
  • Sequence Analysis, DNA
  • RNA, Messenger
  • Point Mutation
  • Myopia
  • Molecular Sequence Data
  • Molecular Chaperones
  • Mitochondrial Proteins
  • Mice