由双拷贝 SCAPER 框移变异引起的综合征视网膜色素变性。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-05-09 DOI:10.1080/13816810.2023.2204359
Shaden H Yassin, Fritz Gerald P Kalaw, Alexa Li, Emily Fletcher, Shyamanga Borooah
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引用次数: 0

摘要

目的:据报道,SCAPER 基因突变是综合征和非综合征常染色体隐性色素性视网膜炎(RP)的罕见病因。我们报告了一例由 SCAPER 基因的框架移位杂合突变引起的综合征 RP 病例。我们的病例具有相对轻微的眼部表型,全场视网膜电图(ffERG)显示存在视锥受累,但不影响中心视力或色觉:一名 17 岁的男性出现双眼进行性夜视。他接受了眼科检查和多模态成像。我们使用了一个由 322 个基因组成的完整视网膜变性面板,对该患者视网膜营养不良的分子病因进行了筛查,并进行了家族分离分析:该患者的眼底检查显示出轻度视网膜营养不良的表型,视盘呈蜡样苍白,视网膜动脉血管变细,双侧中周出现单个骨刺样色素改变。多模态成像和 ffERG 显示,患者双侧视锥功能障碍,但不影响中心视力或色觉。接受检查的家庭成员均正常。发现该患者是 SCAPER c.3781del、p. (Val1261Serfs*26)和 c.868_869del、p. (Glu290Serfs*7)两个新型框架移位致病变体的杂合子,这两个变体都会导致预测的过早终止。经检测,家族成员均为 SCAPER c.868_869del、p. (Glu290Serfs*7)致病变异杂合子,证实了他们的携带者身份:我们报告了一例与 SCAPER 致病变异相关的综合 RP 病例,该病例的眼部表型以前从未报道过,这将进一步丰富与 SCAPER 致病变异相关的视网膜病变和全身特征的表型谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Syndromic retinitis pigmentosa caused by biallelic SCAPER frameshift variant.

Purpose: Mutations in the SCAPER gene have previously been reported to be a rare cause of syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). We report a case of syndromic RP caused by a frameshift heterozygous mutation in SCAPER. Our case has a relatively mild ocular phenotype with the presence of cone involvement noted on full field electroretinogram (ffERG) without impacting central or color vision.

Materials and methods: A 17-year-old male presented with progressive nyctalopia in both eyes. He underwent ophthalmic examination and multimodal imaging. A complete retinal degeneration panel consisting of 322 genes was used to screen for molecular causes of retinal dystrophy in this patient along with family segregation analysis.

Results: Fundus examination of the proband revealed mild RP phenotype with waxy pallor of optic discs, attenuated retinal arterioles, and single bone spicule like pigmentary change in the mid-periphery bilaterally. Multimodal imaging and ffERG demonstrated a picture of RP with cone dysfunction without impacting central or color vision bilaterally. Examined family members were found to be normal. The proband was found to be heterozygous for two novel frameshift pathogenic variants in SCAPER c.3781del, p. (Val1261Serfs*26), c.868_869del, p. (Glu290Serfs*7) both leading to predicted premature termination. The family members tested were found to be heterozygous for SCAPER c.868_869del, p. (Glu290Serfs*7) pathogenic variant confirming their carrier status.

Conclusion: We report a case of a syndromic RP of previously unreported ocular phenotype associated with SCAPER pathogenic variant, which will add to the phenotypic spectrum of retinopathy and systemic features associated with pathogenic variants in SCAPER.

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来源期刊
Ophthalmic Genetics
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.
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