Tokgöz Yılmaz, Suna2021-01-052021-01-052018https://doi.org/10.4274/balkanmedj.2017.0946http://hdl.handle.net/20.500.12575/72637Background: 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.enHearing lossSYNE4 gene high-throughput DNA sequencingArticle352196198