A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss
| dc.contributor.author | Tokgöz Yılmaz, Suna | |
| dc.contributor.department | Tıp Fakültesi | tr_TR |
| dc.date.accessioned | 2021-01-05T07:36:58Z | |
| dc.date.available | 2021-01-05T07:36:58Z | |
| dc.date.issued | 2018 | |
| dc.description.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. | tr_TR |
| dc.identifier.endpage | 198 | tr_TR |
| dc.identifier.issue | 2 | tr_TR |
| dc.identifier.startpage | 196 | tr_TR |
| dc.identifier.uri | https://doi.org/10.4274/balkanmedj.2017.0946 | tr_TR |
| dc.identifier.uri | http://hdl.handle.net/20.500.12575/72637 | |
| dc.identifier.volume | 35 | tr_TR |
| dc.language.iso | en | tr_TR |
| dc.relation.isversionof | 10.4274/balkanmedj.2017.0946 | tr_TR |
| dc.relation.journal | Balkan Med J . | tr_TR |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | tr_TR |
| dc.subject | Hearing loss | tr_TR |
| dc.subject | SYNE4 gene high-throughput DNA sequencing | tr_TR |
| dc.title | A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss | tr_TR |
| dc.type | Article | tr_TR |