Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.

doi:10.1136/jmg-2023-109750

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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.

Journal of medical genetics - 20 Jun 2024

Goto Kensuke, Koyanagi Yoshito, Akiyama Masato, Murakami Yusuke, Fukushima Masatoshi, Fujiwara Kohta, Iijima Hanae, Yamaguchi Mitsuyo, Endo Mikiko, Hashimoto Kazuki, Ishizu Masataka, Hirakata Toshiaki, Mizobuchi Kei, Takayama Masakazu, Ota Junya, Sajiki Ai Fujita, Kominami Taro, Ushida Hiroaki, Fujita Kosuke, Kaneko Hiroki, Ueno Shinji, Hayashi Takaaki, Terao Chikashi, Hotta Yoshihiro, Murakami Akira, Kuniyoshi Kazuki, Kusaka Shunji, Wada Yuko, Abe Toshiaki, Nakazawa Toru, Ikeda Yasuhiro, Momozawa Yukihide, Sonoda Koh-Hei, Nishiguchi Koji M

Abstract excerpt

BACKGROUND: As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant interpretation guidelines for Japanese patients with IRD (J-IRD-VI...

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PMID: 38499336
DOI: 10.1136/jmg-2023-109750

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