A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2).

DIAGNOSTICS ALGORITHM OF DIABETIC POLYNEUROPATHY IN PREDICTION OF CLINICAL COURSE.

Aim: To estimate the importance of new algorithm introducing of PDP diagnostics in practice of NEFU medical institute Clinic in detection of severity level and predicting of clinical course.

Materials And Methods: 50 people with sensory-motor PDP form among patients with 2 type diabetes were examined on the basis of Clinic of NEFU medical institute. Patients have been divided into 2 groups by disease duration: the first groups were patients with duration of disease till 10 years, the second group--more than 10 years.