Article
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Genes - 18 Nov 2021
Oishi Akio, Fujinami Kaoru, Mawatari Go, Naoi Nobuhisa, Ikeda Yasuhiro, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Hiroyuki, Mizota Atsushi, Shinoda Kei, Kusuhara Sentaro, Nakamura Makoto, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushige
Abstract excerpt
Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and...
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