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Article

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.

Scientific reports - 27 Oct 2024

Natsume Keigo, Kominami Taro, Goto Kensuke, Koyanagi Yoshito, Inooka Taiga, Ota Junya, Kawano Kenichi, Yamada Kazuhisa, Okuda Daishi, Yuki Kenya, Nishiguchi Koji M, Ushida Hiroaki

Abstract excerpt

The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*), is associated with RP1-IRD, but the exact role of this mutation in genotype-phenotype correlation remains unclear. In this study, we retrospectively analyzed...

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PMID: 39463394
DOI: 10.1038/s41598-024-77441-3
PMCID: PMC11514212

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