Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
Department of Systems Medicine, Tor Vergata University, 00133 Rome, Italy.
Genes (Basel). 2024 Sep 2;15(9):1158. doi: 10.3390/genes15091158.
Autosomal dominant retinitis pigmentosa (AD-RP) is caused by several genes, among which is one of the most investigated. This article will be focused on and its role in explaining AD-RP cases in the Italian population, taking advantage of the experience of the Genomic Medicine Laboratory UILDM at the Santa Lucia Foundation IRCCS. The retrospective evaluation of the distribution of variants in the Italian patients with a clinical suspicion of RP pointed out eight variants. Of them, four variants (c.632A>T, c.1040C>T, c.1030C>T, c.383_392del) were pathogenic and made it possible to confirm the diagnosis of AD-RP in nine affected patients, highlighting a lower frequency (17%) of variants compared to previous studies (30-40%). In addition, this study identified four variants classified as Variants of Uncertain Significance (VUS). In conclusion, the experience of the Genomic Medicine Laboratory provides an overview of the distribution of variants in the Italian population, highlighting a slightly lower frequency of these variants in our cases series compared to previous reports. However, further studies on variants are essential to characterize peculiar RP phenotypes and extend the spectrum of disease associated with this gene.
常染色体显性遗传视网膜色素变性（AD-RP）由多个基因引起，其中 是研究最多的基因之一。本文将重点介绍 及其在解释意大利人群 AD-RP 病例中的作用，利用圣路加基金会 UILDM 基因组医学实验室的经验。对具有 RP 临床疑似症状的意大利患者中 变异体的分布进行回顾性评估，指出了 8 种变异体。其中，4 种变异体（c.632A>T、c.1040C>T、c.1030C>T、c.383_392del）是致病性的，使 9 名受影响的患者能够确诊为 AD-RP，与之前的研究（30-40%）相比， 变异体的频率较低（17%）。此外，本研究还确定了 4 种归类为意义不明的变异体（VUS）。总之，基因组医学实验室的经验提供了意大利人群中 变异体分布的概述，与之前的报告相比，我们的病例系列中这些变异体的频率略低。然而，进一步研究 变异体对于描述独特的 RP 表型和扩展与该基因相关的疾病谱至关重要。
