A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

den Hollander, Anneke I.; McGee, Terri L.; Ziviello, Carmela; Banfi, Sandro; Dryja, Thaddeus P.; Gonzalez-Fernandez, Federico; Ghosh, Debashis; Berson, Eliot L.

doi:10.1167/iovs.08-2497

Cited by 109Retinal Development and DisordersRetinal Diseases and TreatmentsRetinoids in leukemia and cellular processes

A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

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den Hollander, Anneke I., McGee, Terri L., Ziviello, Carmela, Banfi, Sandro, Dryja, Thaddeus P., Gonzalez-Fernandez, Federico, Ghosh, Debashis, Berson, Eliot L.·2009·Investigative Opthalmology & Visual Science

DOI 10.1167/iovs.08-2497PMC PMC2823395

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Abstract

PURPOSE: Interphotoreceptor retinoid-binding protein (IRBP) has been considered essential for normal rod and cone function, as it mediates the transport of retinoids between the photoreceptors and the retinal pigment epithelium. This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration. METHODS: A consanguineous family was ascertained in which four children had autosomal recessive retinitis pigmentosa (RP). Homozygosity mapping performed with SNP microarrays revealed only one homozygous region shared by all four affected siblings. Sequencing of RBP3, contained in this region, was performed in this family and others with recessive RP. Screening was also performed on patients with various other forms of retinal degeneration or malfunction. RESULTS: Sequence analysis of RBP3 revealed a homozygous missense mutation (p.Asp1080Asn) in the four affected siblings. The mutation affects a residue that is completely conserved in all four homologous modules of the IRBP protein of vertebrate species and in C-terminal-processing proteases, photosynthesis enzymes found in bacteria, algae, and plants. Based on the previously reported crystal structure of Xenopus IRBP, the authors predict that the Asp1080-mediated conserved salt bridge that appears to participate in scaffolding of the retinol-binding domain is abolished by the mutation. No RBP3 mutations were detected in 395 unrelated patients with recessive or isolate RP or in 680 patients with other forms of hereditary retinal degeneration. CONCLUSIONS: Mutations in RBP3 are an infrequent cause of autosomal recessive RP. The mutation Asp1080Asn may alter the conformation of the IRBP protein by disrupting a conserved salt bridge.

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Mutations in other genes, such as those encoding RDH5 or IRBP, are associated with slowly progressive retinal degeneration.
“Mutations in other genes, such as those encoding RDH5 or IRBP, are associated with slowly progressive retinal degeneration.562−565”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [565]
Pathogenic variants in RBP3 are described as an infrequent cause of autosomal recessive RP.
“Pathogenic variants in RBP3 gene are described as an infrequent cause of autosomal recessive RP [167].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [167]

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Authors: den Hollander, A. I., McGee, T. L., Ziviello, C., Banfi, S., Dryja, T. P., Gonzalez-Fernandez, F., Ghosh, D., & Berson, E. L.
Affiliations: From The Berman-Gund Laboratory for the Study of Retinal Degenerations and the
Institute of Genetics and Biophysics (IT)
Telethon Institute Of Genetics And Medicine (IT)
Massachusetts Eye and Ear Infirmary (US)
State University of New York (US)
Roswell Park Comprehensive Cancer Center (US)
ORCID: Banfi, Sandro
Ghosh, Debashis
Venue: Investigative Opthalmology & Visual Science
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Published: 2009-04-01
Volume: 50
Issue: 4
Pages: 1864
ISSN: 0146-0404 (ISSN-L)
1552-5783
DOI: 10.1167/iovs.08-2497
PMC: PMC2823395
OpenAlex: W1972132166
Cited by: 109
References: 45
Citations by year: 2026: 4 · 2025: 9 · 2024: 5 · 2023: 8 · 2022: 5 · 2021: 5 · 2020: 8 · 2019: 4 · 2018: 3 · 2017: 6 · 2016: 8 · 2015: 10 · 2014: 9 · 2013: 7 · 2012: 4
FWCI: 2.42
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Investigative Ophthalmology & Visual Science (publishedVersion, public-domain)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Radboud Repository (Radboud University) (submittedVersion)
Funders: Nederlandse Organisatie voor Wetenschappelijk Onderzoek (916.56.160)
National Eye Institute (R01EY008683, EY 08683, EY00169, EY009412, R37EY000169, R01EY000169, R01EY009412, P30EY014104)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
Keywords: RBP3, interphotoreceptor retinoid-binding protein, autosomal recessive retinitis pigmentosa, missense mutations, retinoid transport, photoreceptor degeneration, retinal degeneration, consanguinity, homozygosity mapping, protein conformation
MeSH terms: Retinol-Binding Proteins, Interstitial, Consanguinity, Electroretinography, Eye Proteins, Female, Genes, Recessive, Genotype, Homozygote, Humans, Male, Ophthalmoscopy, Pedigree, Retinitis Pigmentosa, Retinol-Binding Proteins, Protein Structure, Tertiary, DNA Primers, Mutation, Missense, Polymorphism, Single Nucleotide, Tomography, Optical Coherence

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A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

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