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

Autor: Conti GM; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland.; Institut D'Ophtalmologie de Vevey (INOV), Vevey, Switzerland., Cancellieri F; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Genetics and Genome Biology, University of Leicester, Leicester, UK., Kaminska K; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Vaclavik V; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Genetics and Genome Biology, University of Leicester, Leicester, UK., Tran HV; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland.; Institut D'Ophtalmologie de Vevey (INOV), Vevey, Switzerland.; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.
Jazyk: angličtina
Zdroj: Case reports in ophthalmology [Case Rep Ophthalmol] 2024 Mar 18; Vol. 15 (1), pp. 230-237. Date of Electronic Publication: 2024 Mar 18 (Print Publication: 2024).
DOI: 10.1159/000537997
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to declare.
(© 2024 The Author(s). Published by S. Karger AG, Basel.)
Databáze: MEDLINE
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