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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

1 Oct 2021

Abstract excerpt

Abstract The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and pathology has not been clarified yet. We report two individuals from a single family harbouring a homozygous c.389T>C, p.(Leu130Pro) NAA80 genetic variant. Both individuals show progressive...

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PMID: 34805998
DOI: 10.1093/braincomms/fcab256

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