Table 1 Summary of phenotypes in human NAA10 mutations
From: N-α-acetyltransferase 10 (NAA10) in development: the role of NAA10
Organism scientific name | Homolog | Type of mutation | Protein effect/molecular mechanism | Phenotype | Ref. |
|---|---|---|---|---|---|
Human Homo sapiens | NAA10 | Ser37Pro | Impaired Nt-acetylation in vivo using COFRADIC, reduced catalytic activity for EEEI, DDDI, and SESS, inability to combine with Naa15, reduced degree of Nt-acetylation of THOC7 | Perinatal lethal disorder, hypotonia, global developmental delay, cryptorchidism, cardiac arrhythmias, skin laxity, dysmorphic features, hernias, large fontanels | |
c.471+2T→A | STRA6 expression significantly decreased, loss of TSC2 binding and a reduction of TSC2 stability | Eye malformations, mild to severe developmental delay, defects in the skeletal and genitourinary systems, congenital bilateral anophthalmia, postnatal growth failure, skeletal anomalies, hypotonia, moderate-to-severe mental retardation | |||
Tyr43Ser | Catalytically impaired in vitro, with approximately an 85% reduction in Nt-catalytic activity for EEEI, DDDI, and SESS | Intellectual disability, facial dysmorphism, scoliosis, long QT | |||
Val107Phe/Arg116Trp | Reduction in catalytic activity for the EEEI and SESS (V107P; ~95%, R116W; ~15%) | Severe global developmental delay with postnatal growth, skeletal anomalies, truncal hypotonia with hypertonia of the extremities, minor facial features, behavioral anomalies | |||
Arg83Cys | Interfere Ac-CoA binding, 60% reducuction in Nt-catalytic activity | Hypotonia, global developmental delay, dysmorphic features, autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, hypertension with left ventricular hypertrophy, thin corpus callosum, progressive white matter loss | |||
Phe128Leu/Ile | Altered structure and reduced stability, dramatic recuction of Nt-catalytic activity | Moderate to severe intellectually disabled, feeding difficulties, eye anomalies, hypotonia, developmental delay |
