A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss

Masterson J., Yildirim B., Gokkaya E., TOKGÖZ YILMAZ S., Tekin M.

BALKAN MEDICAL JOURNAL, cilt.35, sa.2, ss.196-198, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Editöre Mektup
  • Cilt numarası: 35 Sayı: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/balkanmedj.2017.0946
  • Dergi Adı: BALKAN MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.196-198
  • Anahtar Kelimeler: Hearing loss, SYNE4 gene, high-throughput DNA sequencing, NUCLEAR
  • Ankara Üniversitesi Adresli: Evet

Özet

Background: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families.