Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

Pijuan, JordiVilanova Adell, AlbaCasas Alba, DídacCampistol Plana, JaumeHoenicka Blanco, JanetPalau Martínez, Francesc2025-01-152024-03-010009-9163https://hdl.handle.net/2445/217531We studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father. Functional genomics studies showed that parents express 50% (nonsense-mediated decay, NMD) of the RNA/protein while the patient does not produce enough protein for normal development.3 p.application/pdfengcc by-nc-nd (c) Pijuan, Jordi et al., 2024GenòmicaTrastorns del desenvolupamentGenètica mèdicaGenomicsDevelopmental disabilitiesMedical geneticsInheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variantsinfo:eu-repo/semantics/article7517642025-01-15info:eu-repo/semantics/openAccess37994112