SLC26A4 mutations are associated with a specific inner ear malformation

Fitoz S., Sennaroglu L., Incesulu A., Cengiz F. B., Koc Y., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol.71, no.3, pp.479-486, 2007 (SCI-Expanded) identifier identifier identifier


Background and aim: Inner ear anomalies have been reported in approximately 30% of children with early onset deafness. Identification of causative genetic factors in a large proportion of these patients was not successful. Mutations in the SLC26A4 gene have been detected in individuals with enlarged vestibular aqueduct (EVA) or Mondini dysplasia. We aimed to characterize the inner ear anomalies associated with SLC26A4 mutations.