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

  • University of Texas Southwestern Medical Center
  • Biomed. Computer Research Institute
  • Thomas Jefferson University

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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
Pages (from-to)507-509
Number of pages3
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume147
Issue number4
DOIs
StatePublished - 5 Jun 2008
Externally publishedYes

Keywords

  • Affect recognition
  • EFHC2
  • Turner syndrome

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