Vestibular dysfunction of patients with mutations of Connexin 26.
The gap junctional network of the inner ear plays an important role in cochlear ionic homoeostasis. Mutations of connexin 26 can induce different types of hearing loss and even deafness. Therefore, it is hypothesized that gap junctions of the human vestibular organ are functionally impaired by mutations of connexin 26. In a prospective, nonrandomized study, the functional status of the semicircular canals and the otolith organs was assessed in one homozygous and six heterozygous carriers of connexin 26 mutations. Five out of seven patients (71.4%) had pathological vestibular evoked myogenic potentials, indicating a loss of saccular function. The utricular function (as tested by subjective haptic vertical) and the function of the semicircular canals (as tested by recording the vestibuloocular reflex) were largely normal. Thus, connexin 26 mutations can be associated with saccular defects of the vestibular receptors.
Todt
Ingo
I
Department of Otolaryngology at UKB, Hospital of the University of Berlin, Germany.
Hennies
Hans Christian
HC
Basta
Dietmar
D
Ernst
Arne
A
D000328:Adult; D000368:Aged; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011446:Prospective Studies; D015837:Vestibular Diseases / Q000235:genetics* / Q000503:physiopathology; D014724:Vestibular Function Tests / Q000379:methods
D017630:Connexins; D000072259:Connexin 26