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

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...

Descripción completa

Detalles Bibliográficos
Autores: Pijuan, Jordi, Vilanova Adell, Alba, Casas Alba, Dídac, Campistol Plana, Jaume, Hoenicka Blanco, Janet, Palau Martínez, Francesc
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/217531
Acceso en línea:https://hdl.handle.net/2445/217531
Access Level:acceso abierto
Palabra clave:Genòmica
Trastorns del desenvolupament
Genètica mèdica
Genomics
Developmental disabilities
Medical genetics
Descripción
Sumario: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.

Similares en LA Referencia