Woman Who Cannot Feel Skin Pain or Tickling Carries NAA10 Gene Variant

A woman in her twenties who cannot feel skin pain, tickling, strongly spiced food, or cold weather has drawn the attention of geneticists because she carries a pathogenic variant in the NAA10 gene. The case, described in BMC Medical Genomics, is presented as a single-patient report and introduces sensory changes that the authors say have not previously been linked to NAA10-related syndrome.

The woman carries an NAA10 c.386 A > C p.(Q129P) variant, a missense change that substitutes a proline for a glutamine at position 129 of the protein. Alongside her striking insensitivity to skin pain, tickling, spicy food, and cold, she has mild intellectual disability but rather good adaptive and conversational skills, according to the case description.

NAA10 sits on the X chromosome and encodes the catalytic subunit of the N-terminal acetyltransferase complex NatA, which co-translationally acetylates nearly half of the human proteome. Given the breadth of NAA10 substrates, one might expect variants in this gene to produce severe outcomes, the authors note.

Indeed, previously described cases of NAA10 variants span a wide spectrum of clinical features, including intellectual disability and psychiatric, cardiac, respiratory, gastrointestinal, ocular, facial, endocrine, or metabolic disorders. Against that backdrop, the predominantly sensory presentation of this patient stands out.

The authors conclude that the patient’s clinical presentation reflects defective function of NAA10, with predominant effects observed in the nervous system. The complex sensory alterations, they write, have not previously been reported in association with NAA10-related syndrome, and the case therefore expands the phenotypic spectrum of the condition.

Because this is a case report of one individual, the findings describe an association between this specific variant and one patient’s symptoms rather than a demonstrated mechanism or a general effect of NAA10 variants. The report is being shared early as a peer-reviewed, accepted article that is citable and carries a permanent DOI, with a final version of record to follow.

For now, the case serves as a reminder that a gene touching nearly half the proteome can, in a single patient, produce a phenotype far narrower and stranger than its biochemical reach would suggest.

Subject of Research: A case report linking a pathogenic NAA10 gene variant to insensitivity to skin pain, tickling, spicy food, and cold in one woman.

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

Article References: Hassel, B., Emhjellen, P. E., Ulvin, L. B., & McTiernan, N. (2026). Insensitivity to skin pain, tickling, and spicy food in a woman with a pathogenic NAA10 variant: a case report. BMC Medical Genomics. https://doi.org/10.1186/s12920-026-02488-2

Image Credits: AI Generated

DOI: 10.1186/s12920-026-02488-2

Keywords: NAA10, genetics, case report, sensory perception, NatA complex, X chromosome, intellectual disability, pain insensitivity, missense variant, BMC Medical Genomics, Insensitivity, skin