Congenital prosopagnosia is associated with a genetic variation in the oxytocin receptor (OXTR) gene: An exploratory study

Zaira Cattaneo, Roberta Daini, Manuela Malaspina, Federico Manai, Mariarita Lillo, Valentina Fermi, Susanna Schiavi, Boris Suchan, Sergio Comincini

Research output: Contribution to journalArticle


Face-recognition deficits, referred to with the term prosopagnosia (i.e., face blindness), may manifest during development in the absence of any brain injury (from here the term congenital prosopagnosia, CP). It has been estimated that approximately 2.5% of the population is affected by face-processing deficits not depending on brain lesions, and varying a lot in severity. The genetic bases of this disorder are not known. In this study we tested for genetic association between single-nucleotide polymorphisms (SNPs) in the oxytocin receptor gene (OXTR) and CP in a restricted cohort of Italian participants. We found evidence of an association between the common genetic variants rs53576 and rs2254298 OXTR SNPs and prosopagnosia. This association was also found when including an additional group of German individuals classified as prosopagnosic in the analysis. Our preliminary data provide initial support for the involvement of genetic variants of OXTR in a relevant cognitive impairment, whose genetic bases are still largely unexplored.

Original languageEnglish
Pages (from-to)162-173
Number of pages12
Publication statusPublished - Dec 17 2016



  • congenital prosopagnosia
  • face blindness
  • oxytocin receptor gene

ASJC Scopus subject areas

  • Neuroscience(all)

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