Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

OCAK E., DUMAN D., Tekin M.

BALKAN MEDICAL JOURNAL, cilt.36, sa.4, ss.206-211, 2019 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 36 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/balkanmedj.galenos.2019.2019.4.66
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.206-211
  • Anahtar Kelimeler: Anomaly, genetics, inner ear, syndrome, PENDRED SYNDROME, HEARING-LOSS, DEAFNESS, MUTATIONS, EXPRESSION, FGF, DIFFERENTIATION, IDENTIFICATION, MORPHOGENESIS, NEUROGENESIS
  • Ankara Üniversitesi Adresli: Evet

Özet

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner car anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss.