A novel missense mutation of the GRK1 gene in Oguchi disease

Teke,Mehmet Yasin; Citirik,Mehmet; Kabacam,Serkan; Demircan,Suleyman; Alikasifoglu,Mehmet

doi:10.3892/mmr.2016.5620

October-2016 Volume 14 Issue 4

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October-2016 Volume 14 Issue 4

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Article 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 / Copyright

Affiliations: SB Ankara Ulucanlar Eye Education and Research Hospital, Ankara 06230, Turkey, Department of Medical Genetics, Hacettepe University, School of Medicine, Ankara 06230, Turkey

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

https://doi.org/10.3892/mmr.2016.5620
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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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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

A novel missense mutation of the GRK1 gene in Oguchi disease

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