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, vol.35, no.2, pp.196-198, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Editorial Material
  • Volume: 35 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.4274/balkanmedj.2017.0946
  • Journal Name: BALKAN MEDICAL JOURNAL
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.196-198
  • Keywords: Hearing loss, SYNE4 gene, high-throughput DNA sequencing, NUCLEAR
  • Ankara University Affiliated: Yes

Abstract

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.