Relevance to Autism

Mutations in the NAA10 gene are responsible for Ogden syndrome (OMIM 300855), an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia; a subset of individuals with this syndrome have also presented with autism spectrum disorder or autistic features/stereotypy (Popp et al., 2015; Saunier et al., 2016; Sidhu et al., 2017; Valentine et al., 2018; Cheng et al., 2019; Bader et al., 2020; Maini et al., 2021; McTiernan et al., 2022; Lyon et al., 2023). Mutations in this gene are also responsible for a syndromic form of microphthalmia (MCOPS1; OMIM 309800), an X-linked disorder characterized by unilateral or bilateral microphthalmia or anophthalmia with frequently observed extraocular features that include impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs; worsening autistic behavior was observed in one of three brothers with this condition who had a maternally-inherited splice-site variant in the NAA10 gene (Esmailpour et al., 2014). Missense variants in the NAA10 gene have also been identified in ASD probands from WES/WGS studies (Mahjani et al., 2021; Chan et al., 2022).

Molecular Function

N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex.

External Links

References