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 Arnesen

Published 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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
zika virus
peritoneal dialysis
intellectual disability
electronic health record
machine learning
fatty acid
autism spectrum disorder