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

Yıl 2018, Cilt: 35 Sayı: 2, 196 - 198, 01.03.2018

John Masterson Busegül Yıldırım Ece Gökkaya Suna Tokgöz Yılmaz , Mustafa Tekin

Öz

In this report it was presented 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. 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. 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.

Anahtar Kelimeler

Hearing loss, SYNE4 gene, high-throughput DNA sequencing

Kaynakça

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