A novel deletion-insertion variant of RS1 in X-linked retinoschisis.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-06-26 DOI:10.1080/13816810.2025.2523473

Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Kazuki Kuniyoshi, Hiroyuki Kondo, Tadashi Nakano

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引用次数: 0

Abstract

Purpose: Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-insertion variant of RS1.

Methods: In addition to ophthalmological examinations, molecular genetic analyses were performed using exome sequencing, polymerase chain reaction and Sanger sequencing.

Results: The patient was diagnosed with XLRS based on findings from funduscopy, optical coherence tomography, and full-field electroretinography. Exome sequencing identified a deletion of RS1 exon 4, located between exons 19 and 20 of the CDKL5 gene, which is oriented in the reverse direction relative to RS1. Ultimately, we confirmed a 453 bp deletion, including exon 4 of RS1, along with a 15 bp insertion at the deletion site, by verifying sufficient sequencing coverage for exons 19 and 20 of CDKL5.

Conclusions: Exome sequencing is valuable not only for detecting single nucleotide variants but also for identifying exon deletions. Determining the coverage of exon regions in the CDKL5 gene can assist in defining deletion-insertion variants in RS1.

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在x连锁视网膜裂中发现一种新的RS1缺失-插入变异。

目的：在RS1基因中很少观察到结构变异，如大缺失或插入。在这里，我们报告了一位患有x连锁视网膜裂（XLRS）的20岁男性患者，该患者携带一种新的RS1缺失插入变体。方法：除眼科检查外，采用外显子组测序、聚合酶链反应和Sanger测序进行分子遗传学分析。结果：根据眼底检查、光学相干断层扫描和全视场视网膜电图的结果，诊断为XLRS。外显子组测序发现，位于CDKL5基因外显子19和20之间的RS1外显子4缺失，相对于RS1的方向相反。最终，通过验证CDKL5的19和20外显子的足够测序覆盖率，我们确认了一个453bp的缺失，包括RS1的外显子4，以及在缺失位点的15bp插入。结论：外显子组测序不仅对检测单核苷酸变异有价值，而且对鉴定外显子缺失也有价值。确定CDKL5基因外显子区域的覆盖范围有助于确定RS1中的缺失-插入变异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.