Article
Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi - 15 May 2020
Takeda Yukito, Kubota Daiki, Oishi Noriko, Maruyama Kaori, Gocho Kiyoko, Yamaki Kunihiko, Igarashi Tsutomu, Takahashi Hiroshi, Kameya Shuhei
Abstract excerpt
BACKGROUND: The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Leber congenital amaurosis type 1. The purpose of this study was to identify the phenotype of a Japanese patient with a...
Topics
- Genetic Association Studies
- Guanylate Cyclase
- Humans
- Macular Degeneration
- Mutation
- Receptors, Cell Surface