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

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...

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Detalles Bibliográficos
Autores principales: Masterson, John, Yıldırım, Busegül, Gökkaya, Ece, Tokgöz Yılmaz, Suna, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863260/
https://www.ncbi.nlm.nih.gov/pubmed/28958982
http://dx.doi.org/10.4274/balkanmedj.2017.0946
Descripción
Sumario: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.