Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys.

Prepubertal testosterone levels are lower in intellectually gifted boys. The aim of this pilot study was to analyze potential genetic factors related to testosterone metabolism in control and gifted boys. Intellectually gifted (IQ>130; n = 95) and control (n = 67) boys were genotyped.

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.

Objectives: Non-syndromic hearing loss is one of the most common genetically determined diseases in human. The incidence is approximately 1:700 and most of the cases are caused by mutations in specific locus - DFNB1, which contains two genes -GJB2 and GJB6. For the GJB2 gene following mutations are most prevalent in specific populations - 35delG, 235delC, W24X and 167delT for Caucasians, Asians, Indians and Ashkenazi Jews, respectively.