Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

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 ...

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Autores principales:	Akio Oishi, Kaoru Fujinami, Go Mawatari, Nobuhisa Naoi, Yasuhiro Ikeda, Shinji Ueno, Kazuki Kuniyoshi, Takaaki Hayashi, Hiroyuki Kondo, Atsushi Mizota, Kei Shinoda, Sentaro Kusuhara, Makoto Nakamura, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	retinitis pigmentosa cone-rod dystrophy macular dystrophy <i>peripherin 2</i> (<i>PRPH2</i>) <i>retinal degeneration slow</i> (<i>RDS</i>) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/0eb153e869f0451885260329ab65019c
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spelling	oai:doaj.org-article:0eb153e869f0451885260329ab65019c2021-11-25T17:42:21ZGenetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan10.3390/genes121118172073-4425https://doaj.org/article/0eb153e869f0451885260329ab65019c2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1817https://doaj.org/toc/2073-4425<i>Peripherin-2</i> (<i>PRPH2</i>) 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 <i>PRPH2</i>-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.Akio OishiKaoru FujinamiGo MawatariNobuhisa NaoiYasuhiro IkedaShinji UenoKazuki KuniyoshiTakaaki HayashiHiroyuki KondoAtsushi MizotaKei ShinodaSentaro KusuharaMakoto NakamuraTakeshi IwataAkitaka TsujikawaKazushige TsunodaMDPI AGarticleretinitis pigmentosacone-rod dystrophymacular dystrophy<i>peripherin 2</i> (<i>PRPH2</i>)<i>retinal degeneration slow</i> (<i>RDS</i>)GeneticsQH426-470ENGenes, Vol 12, Iss 1817, p 1817 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	retinitis pigmentosa cone-rod dystrophy macular dystrophy <i>peripherin 2</i> (<i>PRPH2</i>) <i>retinal degeneration slow</i> (<i>RDS</i>) Genetics QH426-470
spellingShingle	retinitis pigmentosa cone-rod dystrophy macular dystrophy <i>peripherin 2</i> (<i>PRPH2</i>) <i>retinal degeneration slow</i> (<i>RDS</i>) Genetics QH426-470 Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
description	<i>Peripherin-2</i> (<i>PRPH2</i>) 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 <i>PRPH2</i>-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.
format	article
author	Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda
author_facet	Akio Oishi Kaoru Fujinami Go Mawatari Nobuhisa Naoi Yasuhiro Ikeda Shinji Ueno Kazuki Kuniyoshi Takaaki Hayashi Hiroyuki Kondo Atsushi Mizota Kei Shinoda Sentaro Kusuhara Makoto Nakamura Takeshi Iwata Akitaka Tsujikawa Kazushige Tsunoda
author_sort	Akio Oishi
title	Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
title_short	Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
title_full	Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
title_fullStr	Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
title_full_unstemmed	Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan
title_sort	genetic and phenotypic landscape of <i>prph2</i>-associated retinal dystrophy in japan
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/0eb153e869f0451885260329ab65019c
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Genetic and Phenotypic Landscape of <i>PRPH2</i>-Associated Retinal Dystrophy in Japan

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