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

Clin Genet. 2023 Nov 22. doi: 10.1111/cge.14454. Online ahead of print.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.PMID:37994112 | DOI:10.1111/cge.14454

Source: Clinical Genetics - November 23, 2023 Category: Genetics & Stem Cells Authors: Jordi Pijuan Alba Vilanova-Adell D ídac Casas-Alba Jaume Campistol Janet Hoenicka Francesc Palau Source Type: research