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)

Int J Pediatr Otorhinolaryngol. 2018 Jan:104:94-97. doi: 10.1016/j.ijporl.2017.11.001. Epub 2017 Nov 6.

Abstract

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). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4-variant.

Keywords: DFNX2; Eastern Siberia; Inner ear abnormality; POU3F4; Russia; X-linked recessive deafness; Yakuts.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ear, Inner / abnormalities*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Hearing Loss, Conductive / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Tests
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • POU Domain Factors / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Siberia
  • Tomography, X-Ray Computed

Substances

  • POU Domain Factors
  • POU3F4 protein, human

Supplementary concepts

  • Progressive hearing loss stapes fixation