Confirmatory study of influence of EFHC2 genetic variant on complex phenotype in x-monosomic females
This research aimed to identify genetic influences in the development and function of neural systems that may be disrupted in individuals with impaired social and cognitive functions by studying individuals with Turners syndrome, a condition in which one of the two X chromosomes normally found in females is missing or incomplete. Because individuals with Turner syndrome have similar social cognitive deficits as many individuals with autism, and because autism is a condition in which males outnumber females significantly, the results of this research shed light on genetic vulnerability to autism. The goal was to map a genetic locus to the X-chromosome associated with emotion-processing deficits in individuals with Turner syndrome. Researchers investigated through a replication study the hypothesis that the EFHC2 gene contributes to social cognitive difficulties in Turner syndrome, and the hypothesis that specific allelic variants in the gene contribute to vulnerability to autism.
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