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• W2613575462 abstract "Abstract Bardet–Biedl syndrome ( BBS ) and Alström syndrome ( ALMS ) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS / ALMS cohorts have been extensively reported, little is known about the functional effect of those changes. Thus, splicing variants are estimated to represent 15% of disease‐causing mutations, and there is growing evidence that many exonic changes are really splicing variants misclassified. In this study, we aimed to analyse for the first time several variants in BBS 2 , ARL 6/ BBS 3 , BBS 4 and ALMS 1 genes predicted to produce aberrant splicing by minigene assay. We found discordance between bioinformatics analysis and experimental data when comparing wild‐type and mutant constructs. Remarkably, we identified nonsense variants presumably resistant to nonsense‐mediated decay, even when a premature termination codon would be introduced in the second amino acid (p.(G2*) mutation in ARL 6/ BBS 3 gene). As a whole, we report one of the first functional studies of BBS / ALMS 1 variants using minigene assay, trying to elucidate their role in disease. Functional studies of variants identified in BBS and ALMS patients are essential for their proper classification and subsequent genetic counselling and could also be the start point for new therapeutic approaches, currently based only on symptomatic treatment." @default.
• W2613575462 created "2017-05-19" @default.
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• W2613575462 date "2017-05-13" @default.
• W2613575462 modified "2023-10-15" @default.
• W2613575462 title "Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients" @default.
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• W2613575462 doi "https://doi.org/10.1111/jcmm.13147" @default.
• W2613575462 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5618670" @default.
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• W2613575462 hasPublicationYear "2017" @default.
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