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

摘要

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.