An overview of hereditary hearing loss

Creative Commons License

Bayazit Y., Yilmaz M.

ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES, cilt.68, sa.2, ss.57-63, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 68 Sayı: 2
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1159/000091090
  • Dergi Adı: ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.57-63
  • Anahtar Kelimeler: hereditary hearing loss, syndromic hearing loss, nonsyndromic hearing loss, X-linked hearing loss, mitochondrial hearing loss, 26 GENE GJB2, RECESSIVE DEAFNESS, MISSENSE MUTATION, DFNB1, DIAGNOSIS, THERAPY, FORM
  • Gazi Üniversitesi Adresli: Hayır

Özet

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsyndromic, and recessive dominant, X-linked and mitochondrial) was performed. Some of the most common syndromes (Usher, Pendred, Jervell and Lange-Nielsen, Waardenburg, branchio-oto-renal, Stickler, Treacher Collins and Alport syndromes, biotinidase deficiency and Norrie disease) causing genetic hearing loss were also explained briefly. The genes involved in hearing loss and genetic heterogeneity were presented. Copyright (c) 2006 S. Karger AG, Basel.