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

Balkan Med J. 2018 Mar 15;35(2):196-198. doi: 10.4274/balkanmedj.2017.0946. Epub 2017 Sep 29.

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.

Case report: In this report we present two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic SYNE4 variant c.129-1G>T.

Conclusion: This case report provides supportive evidence for the causative role of SYNE4 variants in hearing loss by presenting an additional family with a novel DNA variant.

Keywords: Hearing loss; SYNE4 gene high-throughput DNA sequencing..

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Child
  • Deafness
  • Female
  • Hearing Loss
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Mutation*
  • Pedigree