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在RP1中的双边性低态变体p.Arg1933Ter患者中,晚发缓慢进展的形/黄斑发育不良

Seung Woo Choi¹, Se Joon Woo², Minji Kim²

¹Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

Translational vision science & technology

|August 1, 2024

概括

这项研究表明,以前非致病性RP1基因变异 (p.Arg1933Ter) 可以导致 homozygous hypomorphic变异的患者晚期发病的/斑点变. 这一发现挑战了关于RP1基因致病性的传统观点.

科学领域:

遗传学是一个遗传学.
眼科医生眼科眼科
分子生物学分子生物学

背景情况:

RP1基因对光受体功能至关重要.
同性双胞胎的低形变体,如p.Arg1933Ter,以前被认为是非致病的.
遗传性视网膜疾病往往涉及复杂的遗传因素.

研究的目的:

为了研究同卵同胞p.Arg1933Ter RP1变体的患者/黄斑变的临床表现.
为了确定这种特定的RP1变异是否与晚发,缓慢进展的视网膜疾病有关.
重新评估同卵性低形态RP1变体的致病性.

主要方法:

五名患有双性p.Arg1933Ter RP1变体的患者的回顾性分析.
综合眼科检查,包括多式成像和电网膜学.
在RP1和其他视网膜疾病基因中对副本数变异和Alu插入的遗传分析.

主要成果:

除了同卵同胞的p.Arg1933Ter变异之外,没有发现致病性测序错误或结构变异.
在研究队列中没有检测到RP1中插入 Alu 元素.
患者出现了晚期发病的形/黄斑缩症 (症状发病45-50岁),严重程度从轻微到显著的缩.

结论:

这是第一个报告与同卵性低形态RP1变体 (p.Arg1933Ter) 相关的圆/黄斑变的研究.
这些发现表明,同卵性p.Arg1933Ter RP1变体可能具有致病性,导致视网膜退化.
这项研究扩大了对RP1基因功能及其在遗传性视网膜疾病中的作用的理解.

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