2. Academic Validation
  3. Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease

Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease

  • Am J Ophthalmol. 2007 Sep;144(3):475-7. doi: 10.1016/j.ajo.2007.03.025.
Akio Oishi 1,  Masayuki Akimoto,  Naoaki Kawagoe,  Michiko Mandai,  Masayo Takahashi,  Nagahisa Yoshimura
Affiliations

Affiliation

  • 1 Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
PMID: 17765441 DOI: 10.1016/j.ajo.2007.03.025
Abstract

Purpose: To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease.

Design: Observational case report.

Methods: Two unrelated Japanese patients with Oguchi disease were examined. After informed consent was obtained, the coding regions of SAG and GRK1 were analyzed by direct Sequencing.

Results: Although no mutation was found in SAG, two novel homozygous mutations in GRK1, c.1079 del T and c.1408-1412 CCCCC to CCC, were identified. Both mutations are expected to generate null alleles of GRK1.

Conclusions: The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.

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