SLC26A4 mutations are associated with a specific inner ear malformation

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

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.71, sa.3, ss.479-486, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.ijporl.2006.11.022
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.479-486
  • Anahtar Kelimeler: deafness, enlarged vestibular aqueduct, hearing loss, incomplete partition, inner ear anomalies, mondini dysplasia, SLC26A4, ENLARGED VESTIBULAR AQUEDUCT, SENSORINEURAL HEARING-LOSS, PENDRED-SYNDROME GENE, PDS, CLASSIFICATION, DEAFNESS
  • Ankara Üniversitesi Adresli: Evet

Özet

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.