A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
Rasmus ReeAnni Sofie GeithusPernille Mathiesen TørringKristina Pilekær SørensenMads Damkjærnull nullSally Ann LynchThomas ArnesenPublished in: BMC medical genetics (2019)
We show that NAA10-R83H has a reduced monomeric catalytic activity, likely due to impaired enzyme-Ac-CoA binding. Our data support a model where reduced NAA10 and/or NatA activity cause the phenotypes observed in the two patients.