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

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dc.contributor.authorPijuan, Jordi
dc.contributor.authorVilanova Adell, Alba
dc.contributor.authorCasas Alba, Dídac
dc.contributor.authorCampistol Plana, Jaume
dc.contributor.authorHoenicka Blanco, Janet
dc.contributor.authorPalau Martínez, Francesc
dc.date.accessioned2025-01-15T14:02:29Z
dc.date.issued2024-03-01
dc.date.updated2025-01-15T14:02:29Z
dc.description.abstractWe 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.
dc.format.extent3 p.
dc.format.mimetypeapplication/pdf
dc.identifier.idgrec751764
dc.identifier.issn0009-9163
dc.identifier.pmid37994112
dc.identifier.urihttps://hdl.handle.net/2445/217531
dc.language.isoeng
dc.publisherJohn Wiley & Sons
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1111/cge.14454
dc.relation.ispartofClinical Genetics, 2024, vol. 105, num.3, p. 340-342
dc.relation.urihttps://doi.org/10.1111/cge.14454
dc.rightscc by-nc-nd (c) Pijuan, Jordi et al., 2024
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.sourceArticles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)
dc.subject.classificationGenòmica
dc.subject.classificationTrastorns del desenvolupament
dc.subject.classificationGenètica mèdica
dc.subject.otherGenomics
dc.subject.otherDevelopmental disabilities
dc.subject.otherMedical genetics
dc.titleInheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

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