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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/209724
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype
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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.
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ESTEVE GARCIA, Anna, COBOS, Estefania, SAU, Cristina, PADRÓ MIQUEL, Ariadna, CATALÀ-MORA, Jaume, BARBERÁN-MARTÍNEZ, Pilar, MILLÁN, José m., GARCÍA GARCÍA, Gema, AGUILERA, Cinthia. Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype. _Frontiers in Genetics_. 2024. Vol. 15. [consulta: 9 de gener de 2026]. ISSN: 1664-8021. [Disponible a: https://hdl.handle.net/2445/209724]