Article
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Journal of medical genetics - 1 Nov 2022
Sano Yusuke, Koyanagi Yoshito, Wong Jing Hao, Murakami Yusuke, Fujiwara Kohta, Endo Mikiko, Aoi Tomomi, Hashimoto Kazuki, Nakazawa Toru, Wada Yuko, Ueno Shinji, Gao Dan, Murakami Akira, Hotta Yoshihiro, Ikeda Yasuhiro, Nishiguchi Koji M, Momozawa Yukihide, Sonoda Koh-Hei, Akiyama Masato, Fujimoto Akihiro
Abstract excerpt
Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of pathogenic variants in EYS, the cause of autosomal recessive RP, was unexpectedly high in Japanese patients with unsolved RP. This result suggested that...
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