Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.

Ingrid BaderNina McTiernanChristine DarbakkEugen BoltshauserRasmus ReeSabine EbnerJohannes A MayrThomas Arnesen

Published in: BMC medical genetics (2020)

We demonstrate that NAA10 p.(His16Pro) causes a severe form of syndromic ID in a girl most likely through impaired NatA-mediated Nt-acetylation of cellular proteins. X-inactivation analyses showed a skewed X-inactivation pattern in DNA from blood of the patient with the maternally inherited allele being preferentially methylated/inactivated.

Keyphrases

early onset
intellectual disability
anti inflammatory
case report
oxidative stress
circulating tumor
cell free
single molecule
drug induced