Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/209724
Title: | Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype |
Author: | Esteve-garcia, Anna Cobos, Estefania Sau, Cristina Padró-miquel, Ariadna Català-mora, Jaume Barberán-martínez, Pilar Millán, José M. García-garcía, Gema Aguilera, Cinthia |
Issue Date: | 21-Feb-2024 |
Publisher: | Frontiers Media SA |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3389/fgene.2024.1352063 |
It is part of: | Frontiers in Genetics, 2024, vol. 15 |
URI: | http://hdl.handle.net/2445/209724 |
Related resource: | https://doi.org/10.3389/fgene.2024.1352063 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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fgene-15-1352063.pdf | 1.99 MB | Adobe PDF | View/Open |
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