Table 1. Patient mutations in NAA10 and their consequences.

ID: intellectual disability; DD: developmental delay.

Mutation	Patients	Symptoms	Functional effect	References
Ser37Pro	8 male , 5 female carriers (mothers of affected boys)	Global DD; craniofacial abnormalities; aged appearance; cardiac arrhythmia; death in infancy	Decreased catalytic activity; impaired NAA15 and NAA50 interaction; decreased binding to ICRs; patient fibroblasts have decreased Nt-acetylation; abnormal cell migration and proliferation	(Lee et al., 2017a; Myklebust et al., 2015; Rope et al., 2011)
Tyr43Ser	2 male (brothers), 1 heterozygous female with some symptoms (their mother)	ID; facial dysmorphism; scoliosis; long QT	Decreased catalytic activity; unstable	(Casey et al., 2015)
Ile72Thr	3 male (2 brothers, 1 unrelated)	DD; ID; cardiac abnormalities	Decreased monomeric catalytic activity; unstable	(Stove et al., 2018)
Arg83Cys	8 females (1 girl and 2 deceased boys are siblings; the rest de novo), 2 males	DD; ID; skeletal abnormalities; cardiac abnormalities	Decreased catalytic activity	(Saunier et al., 2016)
Val107Phe	1 female	ID; abnormal muscle tone; growth failure; long QT; skeletal abnormalities	Decreased catalytic activity; decreased binding to ICRs	(Popp et al., 2015)
Val111Gly	1 female	ID; delayed motor and language development	Decreased monomeric catalytic activity; unstable	(McTiernan et al., 2018)
Arg116Trp	1 male, 1 female (unrelated)	ID; abnormal muscle tone; growth failure; skeletal abnormalities	Small reduction in catalytic activity; decreased binding to ICRs	(Lee et al., 2017a; Popp et al., 2015; Rauch et al., 2012; Saunier et al., 2016)
Phe128Ile	1 female	ID; growth failure; abnormal muscle tone	Decreased stability; enzymatic activity not assessed	(Saunier et al., 2016; Thevenon et al., 2016)
Phe128Leu	2 females (unrelated)	ID; growth failure; siezures; abnormal muscle tone	Decreased catalytic activity; decreased stability	(Saunier et al., 2016)
c.471+2T → A	8 male (3 brothers, 4 others in same family)	ID (60% of cases); anophthalmia or microphthalmia; skeletal and genitourinary abnormalities	Truncated protein; enzymatic activity not assessed; patient fibroblasts have cell proliferation defects	(Esmailpour et al., 2014)