Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

870377.pdf (650.92 KB)

Document type

Article

Version

Published version

Publication date

2024-03-01

All rights reserved

Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/217531

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

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

https://doi.org/10.1111/cge.14454

Abstract

We 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.

Subject

Genòmica, Trastorns del desenvolupament, Genètica mèdica

Subject (English)

Genomics, Developmental disabilities, Medical genetics

Citation

Collections

Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

Citation

PIJUAN, Jordi, et al. Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. Clinical Genetics. 2024. Vol. 105, num. 3, pags. 340-342. ISSN 0009-9163. [consulted: 15 of August of 2026]. Available at: https://hdl.handle.net/2445/217531

Export metadata

JSON - METS

Share record