Vestibular function and temporal bone imaging in DFNB1

Hear Res. 2015 Sep:327:227-34. doi: 10.1016/j.heares.2015.07.009. Epub 2015 Jul 15.

Abstract

DFNB1 is the most prevalent type of hereditary hearing impairment known nowadays and the audiometric phenotype is very heterogeneous. There is, however, no consensus in literature on vestibular and imaging characteristics. Vestibular function and imaging results of 44 DFNB1 patients were evaluated in this retrospective study. All patients displayed a response during rotational velocity step testing. In 65% of the cases, the caloric results were within normal range bilaterally. The video head impulse test was normal in all patients. In 34.4% of the CT scans one or more temporal bone anomalies were found. The various anomalies found, were present in small numbers and none seemed convincingly linked to a specific DFNB1genotype. The group of DFNB1 patients presented here is the largest thus far evaluated for their vestibular function. From this study, it can be assumed that DFNB1 is not associated with vestibular dysfunction or specific temporal bone anomalies.

Keywords: DFNB1; Temporal bone imaging; Vestibular function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Connexin 26
  • Connexin 30
  • Connexins / genetics
  • Electronystagmography
  • Eye Movements
  • Female
  • Genetic Predisposition to Disease
  • Head Movements
  • Hearing Loss, Sensorineural / diagnostic imaging*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Nystagmus, Physiologic
  • Phenotype
  • Retrospective Studies
  • Temporal Bone / diagnostic imaging*
  • Tomography, X-Ray Computed
  • Vestibule, Labyrinth / physiopathology*
  • Young Adult

Substances

  • Connexin 30
  • Connexins
  • GJB2 protein, human
  • GJB6 protein, human
  • Connexin 26