GNB1-Related Rod-Cone Dystrophy: A Case Report.
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ABSTRACT: 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.
SUBMITTER: Conti GM
PROVIDER: S-EPMC10948171 | biostudies-literature | 2024 Jan-Dec
REPOSITORIES: biostudies-literature
Publications
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Conti Giovanni Marco GM Cancellieri Francesca F Quinodoz Mathieu M Kaminska Karolina K Vaclavik Veronika V Rivolta Carlo C Tran Hoai Viet HV
Case reports in ophthalmology 20240101 1
<h4>Introduction</h4>The <i>GNB1</i> (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). <i>GNB1</i> 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.<h4>Case presentation</h4>We describe the second confirmed case of a classical rod-cone dystrophy associated ...[more]
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