John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.
Department of Audiology, Ankara University School of Medicine, Ankara, Turkey.
Balkan Med J. 2018 Mar 15;35(2):196-198. doi: 10.4274/balkanmedj.2017.0946. Epub 2017 Sep 29.
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 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families.
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 variant c.129-1G>T.
This case report provides supportive evidence for the causative role of variants in hearing loss by presenting an additional family with a novel DNA variant.
听力损失是最常见的感觉缺陷，其有许多遗传和环境基础。虽然已经在 100 多个基因中确定了致病 DNA 变异，但除了少数例外，大多数导致耳聋的变异都是罕见的。最近有报道称，在两个中东家庭中，有一种与听力损失共分离的单一变异。
在本报告中，我们介绍了一个家族的两名非综合征高频感觉神经性听力损失患者，他们携带一种新型致病性变异 c.129-1G>T 纯合子。
本病例报告通过提供一个具有新型 DNA 变异的额外家族，为变异导致听力损失的致病作用提供了支持性证据。
