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

Jordi PijuanAlba Vilanova-AdellDídac Casas-AlbaJaume CampistolJanet HoenickaFrancesc Palau
Published in: Clinical genetics (2023)
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.
Keyphrases
  • copy number
  • mitochondrial dna
  • case report
  • early onset
  • protein protein
  • binding protein
  • single cell
  • small molecule
  • genome wide
  • case control
  • drug induced