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http://hdl.handle.net/2445/209724
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DC Field | Value | Language |
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dc.contributor.author | Esteve Garcia, Anna | - |
dc.contributor.author | Cobos, Estefania | - |
dc.contributor.author | Sau, Cristina | - |
dc.contributor.author | Padró Miquel, Ariadna | - |
dc.contributor.author | Català Mora, Jaume | - |
dc.contributor.author | Barberán-martínez, Pilar | - |
dc.contributor.author | Millán, José M. | - |
dc.contributor.author | García García, Gema | - |
dc.contributor.author | Aguilera, Cinthia | - |
dc.date.accessioned | 2024-04-11T09:35:24Z | - |
dc.date.available | 2024-04-11T09:35:24Z | - |
dc.date.issued | 2024-02-21 | - |
dc.identifier.issn | 1664-8021 | - |
dc.identifier.uri | http://hdl.handle.net/2445/209724 | - |
dc.description.abstract | Introduction: TULP1 exemplifies the remarkable clinical and genetic heterogeneity observed in inherited retinal dystrophies. Our research describes the clinical and molecular characteristics of a patient manifesting an atypical retinal dystrophy pattern, marked by the identification of both a previously unreported and a rarely encountered TULP1 variant. Methods: Whole-exome sequencing was performed to identify potential causative variants. The pathogenicity of the identified TULP1 variants was evaluated through in silico predictors and a minigene splice assay, specifically designed to assess the effect of the unreported TULP1 variant. Results: We identified two TULP1 gene variants in a patient exhibiting unusual and symmetrical alterations in both retinas, characterized by an increase in autofluorescence along the distribution of retinal vessels. These variants included a known rare missense variant, c.1376T>C, and a novel splice site variant, c.822G>T. For the latter variant (c.822G>T), we conducted a minigene splice assay that demonstrated the incorporation of a premature stop codon. This finding suggests a likely activation of the nonsense-mediated mRNA decay mechanism, ultimately resulting in the absence of protein production from this allele. Segregation analysis confirmed that these variants were in trans. Discussion: Our data support that individuals with biallelic TULP1 variants may present with a unique pattern of macular degeneration and periarteriolar vascular pigmentation. This study highlights the importance of further clinical and molecular characterization of TULP1 variants to elucidate genotype-phenotype correlations in the context of inherited retinal dystrophies. | - |
dc.format.extent | 10 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Frontiers Media SA | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.3389/fgene.2024.1352063 | - |
dc.relation.ispartof | Frontiers in Genetics, 2024, vol. 15 | - |
dc.relation.uri | https://doi.org/10.3389/fgene.2024.1352063 | - |
dc.rights | cc by (c) Esteve Garcia, Anna et al, 2024 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Malalties de la retina | - |
dc.subject.classification | Genètica mèdica | - |
dc.subject.other | Retinal diseases | - |
dc.subject.other | Medical genetics | - |
dc.title | Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2024-04-03T11:02:55Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 38450199 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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File | Description | Size | Format | |
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fgene-15-1352063.pdf | 1.99 MB | Adobe PDF | View/Open |
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