Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

Akiko Suga; Kazutoshi Yoshitake; Naoko Minematsu; Kazushige Tsunoda; Kaoru Fujinami; Yozo Miyake; Kazuki Kuniyoshi; Takaaki Hayashi; Kei Mizobuchi; Shinji Ueno; Hiroko Terasaki; Taro Kominami; Nobuhisa Nao-I; Go Mawatari; Atsushi Mizota; Kei Shinoda; Mineo Kondo; Kumiko Kato; Tetsuju Sekiryu; Makoto Nakamura; Sentaro Kusuhara; Hiroyuki Yamamoto; Shuji Yamamoto; Kiyofumi Mochizuki; Hiroyuki Kondo; Itsuka Matsushita; Shuhei Kameya; Takeo Fukuchi; Tetsuhisa Hatase; Masayuki Horiguchi; Yoshiaki Shimada; Atsuhiro Tanikawa; Shuichi Yamamoto; Gen Miura; Nana Ito; Akira Murakami; Takuro Fujimaki; Yoshihiro Hotta; Koji Tanaka; Takeshi Iwata

doi:10.1002/humu.24492

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

Akiko Suga, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kaoru Fujinami, Yozo Miyake, Kazuki Kuniyoshi, Takaaki Hayashi, Kei Mizobuchi, Shinji Ueno, Hiroko Terasaki, Taro Kominami, Nobuhisa Nao-I, Go Mawatari, Atsushi Mizota, Kei Shinoda, Mineo Kondo, Kumiko Kato, Tetsuju Sekiryu, Makoto NakamuraSentaro Kusuhara, Hiroyuki Yamamoto, Shuji Yamamoto, Kiyofumi Mochizuki, Hiroyuki Kondo, Itsuka Matsushita, Shuhei Kameya, Takeo Fukuchi, Tetsuhisa Hatase, Masayuki Horiguchi, Yoshiaki Shimada, Atsuhiro Tanikawa, Shuichi Yamamoto, Gen Miura, Nana Ito, Akira Murakami, Takuro Fujimaki, Yoshihiro Hotta, Koji Tanaka, Takeshi Iwata

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

15 被引用数 (Scopus)

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Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

本文言語	英語
ページ（範囲）	2251-2264
ページ数	14
ジャーナル	Human Mutation
巻	43
号	12
DOI	https://doi.org/10.1002/humu.24492
出版ステータス	出版済み - 12-2022

All Science Journal Classification (ASJC) codes

遺伝学
遺伝学（臨床）

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10.1002/humu.24492

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Suga, A., Yoshitake, K., Minematsu, N., Tsunoda, K., Fujinami, K., Miyake, Y., Kuniyoshi, K., Hayashi, T., Mizobuchi, K., Ueno, S., Terasaki, H., Kominami, T., Nao-I, N., Mawatari, G., Mizota, A., Shinoda, K., Kondo, M., Kato, K., Sekiryu, T., ... Iwata, T. (2022). Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing. Human Mutation, 43(12), 2251-2264. https://doi.org/10.1002/humu.24492

@article{7b4343030c1f499c85006ba8bc645858,

title = "Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing",

abstract = "Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.",

keywords = "EYS, Japanese population, RP1, inherited retinal disease, retinitis pigmentosa, whole exome sequencing",

author = "Akiko Suga and Kazutoshi Yoshitake and Naoko Minematsu and Kazushige Tsunoda and Kaoru Fujinami and Yozo Miyake and Kazuki Kuniyoshi and Takaaki Hayashi and Kei Mizobuchi and Shinji Ueno and Hiroko Terasaki and Taro Kominami and Nobuhisa Nao-I and Go Mawatari and Atsushi Mizota and Kei Shinoda and Mineo Kondo and Kumiko Kato and Tetsuju Sekiryu and Makoto Nakamura and Sentaro Kusuhara and Hiroyuki Yamamoto and Shuji Yamamoto and Kiyofumi Mochizuki and Hiroyuki Kondo and Itsuka Matsushita and Shuhei Kameya and Takeo Fukuchi and Tetsuhisa Hatase and Masayuki Horiguchi and Yoshiaki Shimada and Atsuhiro Tanikawa and Shuichi Yamamoto and Gen Miura and Nana Ito and Akira Murakami and Takuro Fujimaki and Yoshihiro Hotta and Koji Tanaka and Takeshi Iwata",

note = "Publisher Copyright: {\textcopyright} 2022 Wiley Periodicals LLC.",

year = "2022",

month = dec,

doi = "10.1002/humu.24492",

language = "English",

volume = "43",

pages = "2251--2264",

journal = "Human Mutation",

issn = "1059-7794",

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Suga, A, Yoshitake, K, Minematsu, N, Tsunoda, K, Fujinami, K, Miyake, Y, Kuniyoshi, K, Hayashi, T, Mizobuchi, K, Ueno, S, Terasaki, H, Kominami, T, Nao-I, N, Mawatari, G, Mizota, A, Shinoda, K, Kondo, M, Kato, K, Sekiryu, T, Nakamura, M, Kusuhara, S, Yamamoto, H, Yamamoto, S, Mochizuki, K, Kondo, H, Matsushita, I, Kameya, S, Fukuchi, T, Hatase, T, Horiguchi, M , Shimada, Y , Tanikawa, A, Yamamoto, S, Miura, G, Ito, N, Murakami, A, Fujimaki, T, Hotta, Y, Tanaka, K & Iwata, T 2022, 'Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing', Human Mutation, vol. 43, no. 12, pp. 2251-2264. https://doi.org/10.1002/humu.24492

TY - JOUR

T1 - Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

AU - Suga, Akiko

AU - Yoshitake, Kazutoshi

AU - Minematsu, Naoko

AU - Tsunoda, Kazushige

AU - Fujinami, Kaoru

AU - Miyake, Yozo

AU - Kuniyoshi, Kazuki

AU - Hayashi, Takaaki

AU - Mizobuchi, Kei

AU - Ueno, Shinji

AU - Terasaki, Hiroko

AU - Kominami, Taro

AU - Nao-I, Nobuhisa

AU - Mawatari, Go

AU - Mizota, Atsushi

AU - Shinoda, Kei

AU - Kondo, Mineo

AU - Kato, Kumiko

AU - Sekiryu, Tetsuju

AU - Nakamura, Makoto

AU - Kusuhara, Sentaro

AU - Yamamoto, Hiroyuki

AU - Yamamoto, Shuji

AU - Mochizuki, Kiyofumi

AU - Kondo, Hiroyuki

AU - Matsushita, Itsuka

AU - Kameya, Shuhei

AU - Fukuchi, Takeo

AU - Hatase, Tetsuhisa

AU - Horiguchi, Masayuki

AU - Shimada, Yoshiaki

AU - Tanikawa, Atsuhiro

AU - Yamamoto, Shuichi

AU - Miura, Gen

AU - Ito, Nana

AU - Murakami, Akira

AU - Fujimaki, Takuro

AU - Hotta, Yoshihiro

AU - Tanaka, Koji

AU - Iwata, Takeshi

PY - 2022/12

Y1 - 2022/12

N2 - Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

AB - Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

KW - EYS

KW - Japanese population

KW - RP1

KW - inherited retinal disease

KW - retinitis pigmentosa

KW - whole exome sequencing

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UR - http://www.scopus.com/inward/citedby.url?scp=85141538487&partnerID=8YFLogxK

U2 - 10.1002/humu.24492

DO - 10.1002/humu.24492

M3 - Article

C2 - 36284460

AN - SCOPUS:85141538487

SN - 1059-7794

VL - 43

SP - 2251

EP - 2264

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing

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