EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome

Andrew R. Zinn, Harvey Kushner, Judith L. Ross

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


The neurocognitive phenotype of Turner syndrome (TS) includes deficits in social cognitive skills such as recognition of the facial affect expressing fear. A TS social cognition locus was previously mapped to a 5 megabase interval of Xp11.3-p11.4 by Good et al. [2003]. A recent study by these same workers found evidence for association of a SNP in the EFHC2 gene, rs7055196, within this interval with fear recognition in 45,X TS. As EFHC2 was not a biological candidate gene for this phenotype a priori, we sought to replicate their finding in an independent cohort of 45,X TS subjects, using the same instrument to measure facial affect fear recognition. In contrast to the previous results, we find no evidence of an association between rs7055196 genotype and fear recognition. Other variations in EFHC2 and other candidate genes should be tested for association with social cognition in 45,X TS.

Original languageEnglish (US)
Pages (from-to)507-509
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number4
StatePublished - Jun 5 2008


  • Affect recognition
  • EFHC2
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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