A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2023-08-21 DOI:10.1080/13816810.2023.2245464
Naoko Fukunaga, Takaaki Hayashi, Yuki Yamada, Kei Mizobuchi, Arihito Ohta, Tadashi Nakano
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引用次数: 0

Abstract

Background: Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) can occur in NF1 patients. Herein, we report a novel NF1 variant in an NF1 patient with bilateral optic atrophy.

Methods: Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing (NGS).

Results: A 14-year-old girl diagnosed with NF1 visited our hospital with decreased visual acuity (VA). The patient had no family history of NF1 or visual impairment. Brain and orbital magnetic resonance imaging revealed no remarkable findings. Ophthalmoscopy revealed temporal pallor of the optic discs, which was confirmed by optical coherence tomography findings of significant thinning of the circumpapillary retinal nerve fiber layer in both eyes. At 23 years of age, the decimal-corrected VA had deteriorated to 0.2 in the right eye and 0.1 in the left eye. Additionally, the targeted NGS panel revealed a novel heterozygous stop-gain variant (p.Tyr628Ter) in the NF1 gene; however, no pathogenic variants in OPA1 or the mitochondrial DNA were identified.

Conclusions: A patient with NF1 without OPGs developed bilateral optic atrophy and carried a novel de novo stop-gain variant of NF1. Although the relationship between NF1 variants and bilateral optic atrophy remains unclear, further investigations are required.

神经纤维瘤病 1 型中的一种新型停止增益 NF1 变体和无视胶质瘤的双侧视神经萎缩。
背景:神经纤维瘤病 1 型(NF1)是一种多系统疾病,主要影响皮肤和周围神经系统,由染色体异常和 NF1 基因的截短变异引起。NF1患者可能出现眼部并发症,如Lisch结节和视通路胶质瘤(OPG)。在此,我们报告了一名患有双侧视神经萎缩的NF1患者的新型NF1变体:方法:采用靶向新一代测序技术(NGS)进行眼科检查和基因分析:一名被诊断为 NF1 的 14 岁女孩因视力下降(VA)到我院就诊。患者无 NF1 家族史或视力障碍。脑部和眼眶磁共振成像未发现异常。眼科视网膜镜检查发现视盘颞部苍白,光学相干断层扫描也证实了这一点,即双眼环状视网膜神经纤维层明显变薄。23 岁时,右眼十进制校正视力下降到 0.2,左眼下降到 0.1。此外,靶向 NGS 面板显示 NF1 基因中存在一个新的杂合性停止-增益变异(p.Tyr628Ter);但在 OPA1 或线粒体 DNA 中未发现致病变异:结论:一名没有OPG的NF1患者出现了双侧视神经萎缩,并携带一个新的NF1基因终止-增益变体。尽管NF1变体与双侧视神经萎缩之间的关系尚不清楚,但仍需进一步研究。
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
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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