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Insensitivity to skin pain, tickling, and spicy food in a woman with a pathogenic NAA10 variant: a case report

Year: 2026

Type: article

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.

Source: BMC Medical Genomics

DOI: 10.1186/s12920-026-02488-2

Authors: Bjørnar Hassel, Petter E. Emhjellen, Line B. Ulvin, Nina McTiernan

Institutions: Oslo University Hospital, University of Oslo, University of Bergen

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,190