ISSN : 2146-3123
E-ISSN : 2146-3131

A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss
John Masterson1, Busegül Yıldırım1, Ece Gökkaya1, Suna Tokgöz Yılmaz2, Mustafa Tekin1
1Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA
2Department of Audiology, Ankara University School of Medicine, Ankara, Turkey
3Department of Human Genetics, Dr. John T. Macdonald Foundation, University of Miami Miller School of Medicine, Miami, USA
DOI : 10.4274/balkanmedj.2017.0946

Background: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants in over 100 genes have been identified, most deafness-causing genes 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 c.129-1G>T variant. 
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
Viewed : 473
Downloaded : 179