Open Access

A novel missense mutation of the GRK1 gene in Oguchi disease

  • Authors:
    • Mehmet Yasin Teke
    • Mehmet Citirik
    • Serkan Kabacam
    • Suleyman Demircan
    • Mehmet Alikasifoglu
  • View Affiliations

  • Published online on: August 9, 2016     https://doi.org/10.3892/mmr.2016.5620
  • Pages: 3129-3133
  • Copyright: © Teke et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to have characteristic clinical features of Oguchi disease. Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. Homozygosity at position 308, which resides in the catalytic domain of the GRK1 gene, is the cause of Oguchi disease in this Turkish family.
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October-2016
Volume 14 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Teke MY, Citirik M, Kabacam S, Demircan S and Alikasifoglu M: A novel missense mutation of the GRK1 gene in Oguchi disease. Mol Med Rep 14: 3129-3133, 2016
APA
Teke, M.Y., Citirik, M., Kabacam, S., Demircan, S., & Alikasifoglu, M. (2016). A novel missense mutation of the GRK1 gene in Oguchi disease. Molecular Medicine Reports, 14, 3129-3133. https://doi.org/10.3892/mmr.2016.5620
MLA
Teke, M. Y., Citirik, M., Kabacam, S., Demircan, S., Alikasifoglu, M."A novel missense mutation of the GRK1 gene in Oguchi disease". Molecular Medicine Reports 14.4 (2016): 3129-3133.
Chicago
Teke, M. Y., Citirik, M., Kabacam, S., Demircan, S., Alikasifoglu, M."A novel missense mutation of the GRK1 gene in Oguchi disease". Molecular Medicine Reports 14, no. 4 (2016): 3129-3133. https://doi.org/10.3892/mmr.2016.5620