Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis
Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis
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DOI：
10.1016/j.heares.2012.12.015
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发表时间：
2013-05-01
期刊：
影响因子：
2.8
通讯作者：
Pennings, R. J. E.
中科院分区：
文献类型：
--
作者：
Oonk, A. M. M.;Leijendeckers, J. M.;Pennings, R. J. E.
由于耳聋是人类最常见的感觉神经性疾病，因此更好地了解其根本原因对于改善咨询和康复是必要的。对一个常染色体显性遗传感音神经性耳聋的荷兰家族进行了临床和遗传学评估。选择MYO6基因进行测序是因为其与其他先前描述的DENA 22表型相似，并且发现致病性c.3610C > T（p.R1204W）突变与疾病共分离。这种错义突变导致听力图平坦，伴有轻度听力损失，在以后的生活中，听力损失会变得严重到严重，并逐渐急剧下降。为这个家庭建立的年龄相关的典型听力图（阿尔塔）类似于老年性聋。言语测听和响度缩放的结果支持这一假设，即这种特定MYO6突变的表型模仿老年性聋。(C)2013爱思唯尔有限公司版权所有。
Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited sensorineural hearing loss was clinically and genetically assessed. The MYO6 gene was selected to be sequenced because of similarities with other, previously described DENA22 phenotypes and a pathogenic c.3610C > T (p.R1204W) mutation was found to co-segregate with the disease. This missense mutation results in a flat configured audiogram with a mild hearing loss, which becomes severe to profound and gently to steeply downsloping later in life. The age-related typical audiograms (ARTA) constructed for this family resemble presbyacusis. Speech audiometry and results of loudness scaling support the hypothesis that the phenotype of this specific MYO6 mutation mimics presbyacusis. (C) 2013 Elsevier B.V. All rights reserved.