AbstractThe 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.

摘要引起常染色体显性遗传（AD）和常染色体隐性遗传（AR）疾病的RP1相关遗传性视网膜营养不良（RP1-IRD）的表型因特定的RP1变异而异。C末端附近的一个常见的无意义突变C.5797 C > T（p.Arg1933*）与RP1-IRD相关，但该突变在基因型-表型相关性中的确切作用仍不清楚。

In this study, we retrospectively analyzed patients with RP1-IRD (N = 42) from a single center in Japan. AR RP1-IRD patients with the c.5797 C > T mutation (N = 14) mostly displayed macular dystrophy but rarely retinitis pigmentosa or cone-rod dystrophy. Conversely, AR RP1-IRD patients without the c.5797 C > T mutation, including those with other pathogenic RP1 variants, were mostly diagnosed with severe retinitis pigmentosa.

在这项研究中，我们回顾性分析了来自日本单个中心的RP1-IRD患者（N=42）。具有c.5797 c > T突变（N=14）的AR RP1-IRD患者主要表现为黄斑营养不良，但很少出现色素性视网膜炎或视锥细胞营养不良。相反，没有c.5797 c > T突变的AR RP1-IRD患者，包括具有其他致病性RP1变异的患者，大多被诊断出患有严重的色素性视网膜炎。

Full-field electroretinograms were significantly better in patients homozygous or compound heterozygous for the c.5797 C > T mutation than in those without this mutation, corresponding to their milder phenotypes. Clinical tests also revealed a slower onset of age and a better mean deviation value with the static visual field in AR RP1-IRD patients with the c.5797 C > T mutation compared to those without.

c.5797 c > T突变的纯合子或复合杂合子患者的全场视网膜电图明显优于没有这种突变的患者，这与他们较温和的表型相对应。临床测试还显示，与没有突变的患者相比，具有c.5797 c>T突变的AR RP1-IRD患者的年龄发作较慢，静态视野的平均偏差值更好。

Therefore, the presence of c.5797 C > T may partly account for the phenotypic variety of RP1-IRD and may yield milder phenotypes. These findings may be useful for predicting the prognosis of RP1-IRD patients..

因此，c.5797 c>T的存在可能部分解释了RP1-IRD的表型多样性，并可能产生较温和的表型。这些发现可能有助于预测RP1-IRD患者的预后。。

IntroductionRetinitis pigmentosa (RP) is a major inherited retinal dystrophy (IRD), affecting approximately 1 in 4000 individuals worldwide1,2. In patients with RP, initial symptoms include night blindness and peripheral visual field loss, caused by the degeneration of rod photoreceptors followed by a subsequent loss of visual acuity and central vision due to the degeneration of cone photoreceptors3.RP has been reported to be associated with over 80 genes, leading to a variety of genotypes and phenotypes that partly depend on pathogenic mutations.

引言色素性视网膜炎（RP）是一种主要的遗传性视网膜营养不良（IRD），影响全球约4000人中的1,2。在RP患者中，最初的症状包括夜盲症和周围视野丧失，这是由杆状光感受器变性引起的，随后由于锥体光感受器变性导致视力和中央视力丧失3.RP据报道与80多个基因相关，导致多种基因型和表型，部分取决于致病突变。

Among the RP-associated genes, RP1, BEST1, NR2E3, NRL, RHO, and SAG are known to be associated with autosomal dominant (AD) RP and autosomal recessive (AR) RP2,4. RP1 consists of four exons that encode a protein of 2,156 amino acids located in the connecting cilia of rod and cone photoreceptors5,6. Initially, RP1 was found to cause AD RP5,7, and later was reported to be associated with AR RP8,9,10,11.

在RP相关基因中，已知RP1，BEST1，NR2E3，NRL，RHO和SAG与常染色体显性（AD）RP和常染色体隐性（AR）RP2,4相关。。最初，发现RP1引起AD RP5,7，后来据报道与AR RP8,9,10,11有关。

Subsequently, RP1 was also associated with cone-rod dystrophy and macular dystrophy (MD)12,13.To date, two important and frequent disease-associated variants have been identified. Whole-genome sequencing of Japanese patients with RP revealed a mobile Alu element insertion in exon 4 (c.4052_4053ins328 (p.Tyr1352Alafs*9), hereinafter referred to as the Alu mutation) as the cause of the disease14 and was later found to be prevalent among Japanese patients with RP15.

随后，RP1还与视锥细胞营养不良和黄斑营养不良（MD）12、13有关。迄今为止，已鉴定出两种重要且常见的疾病相关变异。日本RP患者的全基因组测序显示，外显子4（c.4052\U 4053ins328（p.Tyr1352Alafs*9），以下称为Alu突变）中的可移动Alu元件插入是该疾病的原因14，后来发现在日本RP15患者中普遍存在。

Many previous studies that screened the RP1 gene in Japanese RP patients did not report the Alu mutation, partly due to the necessity of an optimized screening method to detect this mutation of an extra 328 base pairs16,17,18.Another frequent pathogenic mutation, c.5797 C > T (p.Arg1933*) (hereinafter referred to as the Arg1933* mutation), with a minor allele frequency o.

先前在日本RP患者中筛选RP1基因的许多研究均未报告Alu突变，部分原因是需要优化筛选方法来检测额外328个碱基对的这种突变16,17,18。另一种常见的致病突变，c.5797 c > T（p.Arg1933*）（以下称为Arg1933*突变），等位基因频率较小。

Data availability

数据可用性

Data are available in a public, open access repository. We have uploaded the variants reported in this study to ClinVar, which can be accessed at the following link: https://www.ncbi.nlm.nih.gov/clinvar/submitters/509444.

数据可在公共的开放存取存储库中获得。我们已经将本研究中报告的变体上传到ClinVar，可以通过以下链接访问：https://www.ncbi.nlm.nih.gov/clinvar/submitters/509444.

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Download referencesAcknowledgementsThis work was supported by the Japan Society for the Promotion of Science (JSPS) KAKENHI (23K15929 to TK and 23H03059 to KMN) and grants from Japan Agency for Medical Research and Development (23ym0126071h0002 and 23ek0109660h0001 to KMN), The manuscript was edited by a professional English editing service (Enago).Author informationAuthors and AffiliationsDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, JapanKeigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M.

下载参考文献致谢这项工作得到了日本科学促进会（JSPS）KAKENHI（TK为23K15929，KMN为23H03059）和日本医学研究与发展署（KMN为23ym0126071h0002和23ek0109660h0001）的资助，手稿由专业英语编辑服务（Enago）编辑。作者信息作者和附属机构名古屋大学医学研究生院眼科，65 Tsurumai cho，昭和区，名古屋，466-8560，日本夏目漱石，Taro Kominami，Kensuke Goto，Yoshito Koyanagi，Taiga Inooka，Junya Ota，Kenichi Kawano，Kazuhisa Yamada，Daishi Okuda，Kenya Yuki，Koji M。

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PubMed Google ScholarContributionsKN analysed data and drafted the manuscript. TK acquired data, analysed data, drafted the manuscript and obtained funding. KG, YK, JO, KK, KYa, OT and KYu acquired data and analysed data. TI contributed to statistical analysis and drafted the manuscript.

PubMed Google ScholarContributionsKN分析了数据并起草了手稿。TK获取数据，分析数据，起草手稿并获得资金。KG，YK，JO，KK，KYa，OT和KYu获取数据并分析数据。TI为统计分析做出了贡献，并起草了手稿。

KMN provided conception, drafted the manuscript and obtained funding. HU provided conception, drafted the manuscript. All authors contributed to study conception and design, and approved the final version of manuscript.Corresponding authorCorrespondence to.

KMN提供了概念，起草了手稿并获得了资金。胡提供了概念，起草了手稿。所有作者都为研究概念和设计做出了贡献，并批准了稿件的最终版本。对应作者对应。

Taro Kominami.Ethics declarations

Taro Kominami。道德宣言

Competing interests

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Reprints and permissionsAbout this articleCite this articleNatsume, K., Kominami, T., Goto, K. et al. Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.

转载和许可本文引用本文Natsume，K.，Kominami，T.，Goto，K。等人。与日本人群中c.5797 c > T（p.Arg1933*）变异相关的RP1相关遗传性视网膜营养不良的表型变异性。

Sci Rep 14, 25669 (2024). https://doi.org/10.1038/s41598-024-77441-3Download citationReceived: 07 August 2024Accepted: 22 October 2024Published: 27 October 2024DOI: https://doi.org/10.1038/s41598-024-77441-3Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard.

Sci Rep 1425669（2024）。https://doi.org/10.1038/s41598-024-77441-3Download引文收到日期：2024年8月7日接受日期：2024年10月22日发布日期：2024年10月27日OI：https://doi.org/10.1038/s41598-024-77441-3Share本文与您共享以下链接的任何人都可以阅读此内容：获取可共享链接对不起，本文目前没有可共享的链接。复制到剪贴板。

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KeywordsRetinitis pigmentosaCone-rod dystrophyMacular dystrophy

关键词色素性皮炎视锥细胞营养不良