与 GNB1 相关的杆-锥体营养不良症：病例报告

IF 0.5 Q4 OPHTHALMOLOGY

Case Reports in Ophthalmology Pub Date : 2024-03-18 eCollection Date: 2024-01-01 DOI:10.1159/000537997

Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran

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引用次数: 0

摘要

简介GNB1（鸟嘌呤核苷酸结合蛋白，β1）基因编码与 G 蛋白偶联受体（GPCRs）相关的异三聚 G 蛋白中无处不在的 β1 亚基。GNB1 基因突变可导致神经发育障碍，临床表现范围广泛。最近在一例杆状核营养不良病例中证实了一种新型变异：我们描述了第二例与 GNB1 第 6 外显子突变[NM_002074.5:c.217G>C, p.(Ala73Pro)] 相关的典型杆-锥体营养不良确诊病例，患者 56 岁，同时伴有轻度智力障碍、注意力缺陷/多动障碍和躯干肥胖：本文证实了 GNB1 在典型视杆细胞营养不良症发病机制中的作用，并强调了将该基因纳入遗传性视网膜疾病基因分析小组的重要性。

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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GNB1-Related Rod-Cone Dystrophy: A Case Report.

Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A novel variant has recently been confirmed in a case of rod-cone dystrophy.

Case presentation: We describe the second confirmed case of a classical rod-cone dystrophy associated with a mutation located in exon 6 of GNB1 [NM_002074.5:c.217G>C, p.(Ala73Pro)] in a 56-year-old patient also presenting mild intellectual disability, attention deficit/hyperactivity disorder, and truncal obesity.

Conclusion: This paper confirms the role of GNB1 in the pathogenesis of a classic rod-cone dystrophy and highlights the importance of including this gene in the genetic analysis panel for inherited retinal diseases.

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来源期刊

Case Reports in Ophthalmology OPHTHALMOLOGY-

CiteScore

0.90

自引率

0.00%

发文量

129

审稿时长

12 weeks

期刊介绍： This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of ophthalmology, including prevention, diagnosis, treatment, toxicities of therapy, supportive care, quality-of-life, and survivorship issues. The submission of negative results is strongly encouraged. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed. The intent of the journal is to provide clinicians and researchers with a tool to disseminate their personal experiences to a wider public as well as to review interesting cases encountered by colleagues all over the world. Universally used terms can be searched across the entire growing collection of case reports, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.