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https://hdl.handle.net/2445/217531| Title: | Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants |
| Author: | Pijuan, Jordi Vilanova Adell, Alba Casas Alba, Dídac Campistol Plana, Jaume Hoenicka Blanco, Janet Palau Martínez, Francesc |
| Keywords: | Genòmica Trastorns del desenvolupament Genètica mèdica Genomics Developmental disabilities Medical genetics |
| Issue Date: | 1-Mar-2024 |
| Publisher: | John Wiley & Sons |
| 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. |
| Note: | Reproducció del document publicat a: https://doi.org/10.1111/cge.14454 |
| It is part of: | Clinical Genetics, 2024, vol. 105, num.3, p. 340-342 |
| URI: | https://hdl.handle.net/2445/217531 |
| Related resource: | https://doi.org/10.1111/cge.14454 |
| ISSN: | 0009-9163 |
| Appears in Collections: | Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| 870377.pdf | 650.92 kB | Adobe PDF | View/Open |
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