Abstract / Summary
Abstract Background The NAA10 gene on the X chromosome encodes NAA10, the catalytic subunit of the N-terminal acetyltransferase complex NatA, which co-translationally acetylates nearly half the human proteome. From the variety of NAA10 substrates, one would surmise that the phenotypes associated with NAA10 variants would be severe. Indeed, previously described cases include a spectrum of clinical features, including intellectual disability and psychiatric, cardiac, respiratory, gastrointestinal, ocular, facial, endocrine, or metabolic disorders. Case presentation Here, we describe a woman in her twenties with an NAA10 c.386 A > C p.(Q129P) variant. She has mild intellectual disability and rather good adaptive and conversational skills. Interestingly, she is insensitive to skin pain, strongly spiced food, being tickled, and cold weather. Conclusions The patient’s clinical presentation reflects a defective function of NAA10, with predominant effects observed in the nervous system. The complex sensory alterations have not previously been reported in association with NAA10 -related syndrome. Hence, this case introduces a previously unrecognized clinical feature, expanding the phenotypic spectrum of NAA10 -related syndrome.