Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease

Ophthalmology
M NakamuraYozo Miyake

Abstract

Only 2 mutations in the arrestin gene have been previously reported to be associated with Oguchi's disease, a homozygous Asn309(1-bp del) mutation in Japanese families and a homozygous Arg193stop mutation in an Indian family. The aim of this article is to report 2 novel mutations in the arrestin gene in 2 Japanese patients with Oguchi's disease and to describe the clinical features with the mutations. Molecular genetic study and observational case report. Two unrelated Japanese patients with Oguchi's disease associated with novel arrestin mutations. Genomic DNA was extracted from leukocytes of the peripheral blood, and exons 2 through 16 of the arrestin gene were amplified by polymerase chain reaction and directly sequenced. A complete ophthalmologic examination was performed, including best-corrected visual acuity, slit-lamp and fundus examinations, fundus photography, and electroretinography (ERG). Direct sequencing of the arrestin gene, evaluation of visual acuity, refraction, and ERG. Three arrestin gene mutations were identified in 2 patients. A compound heterozygous mutation, Arg175stop and Asn309(1-bp del), was identified in 1 patient with Oguchi's disease. The former mutation has not been reported, whereas the latter is...Continue Reading

References

May 2, 1998·Archives of Ophthalmology·M NakazawaM Tamai
Sep 10, 1998·Ophthalmic Research·M YoshiiY Oguchi
Feb 20, 1999·Cell·M W Hentze, A E Kulozik
May 1, 1965·Archives of Ophthalmology·R E CARR, P GOURAS

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Citations

Sep 17, 2011·Documenta Ophthalmologica. Advances in Ophthalmology·Hiroko SonoyamaYozo Miyake
May 19, 2006·The British Journal of Ophthalmology·D M PaskowitzJ L Duncan
Mar 31, 2011·Ophthalmic Research·Takaaki HayashiHiroshi Tsuneoka
May 3, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·J Jason McAnany, Philip R Nolan
Jun 28, 2012·International Journal of Molecular Medicine·Qin WangQingjiong Zhang

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