title: EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.
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.
authors.affiliation: Department of Internal Medicine and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA. andrew.zinn@utsouthwestern.edu
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zinn
authors.forename: Harvey
authors.initials: H
authors.lastname: Kushner
authors.forename: Judith L
authors.initials: JL
authors.lastname: Ross
mesh_terms: D000293:Adolescent; D002135:Calcium-Binding Proteins / Q000235:genetics*; D041321:Chromosomes, Human, X; D005149:Facial Expression; D005239:Fear; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D021641:Recognition, Psychology; D012919:Social Behavior; D014424:Turner Syndrome / Q000235:genetics* / Q000523:psychology
chemical_list: D002135:Calcium-Binding Proteins; C521068:EFHC2 protein, human