Department of Otolaryngology, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, China.
Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# XinWai Da Jie, Beijing 100088, China.
Biomed Res Int. 2020 Jan 21;2020:6370386. doi: 10.1155/2020/6370386. eCollection 2020.
mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family.
In this study, we examined four generations of a Chinese family (M127) with hearing loss. Temporal CT scan, complete physical examination (including skin and hair), and audiological tests were performed. Targeted next-generation and Sanger sequencing were used to identify pathogenic mutations in affected individuals.
All patients exhibited prelingual nonsyndromic sensorineural hearing loss, with severity ranging from moderate to severe. A novel dominant pathogenic variant c.205T > C (p.Phe69Leu) was identified in all patients in this family.
c.205T > C (p.Phe69Leu) was identified as a novel dominant pathogenic variant of associated with prelingual nonsyndromic sensorineural hearing loss. mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family.
突变是遗传性耳聋最常见的原因。已经发现了许多致病性变异，因此，需要鉴定的新的致病性变异越来越少。在这里，我们描述了一个与中国一个家族的显性遗传性耳聋相关的新的致病性变异。
在这项研究中，我们检查了一个有听力损失的中国家族（M127）的四代人。进行了颞骨 CT 扫描、全面体检（包括皮肤和头发）和听力学测试。对受影响个体进行靶向下一代和 Sanger 测序，以鉴定致病性突变。
所有患者均表现为语前非综合征性感觉神经性听力损失，严重程度从中度到重度不等。在这个家族的所有患者中均发现了一个新的显性致病变异 c.205T>C（p.Phe69Leu）。
c.205T>C（p.Phe69Leu）被鉴定为与语前非综合征性感觉神经性听力损失相关的一个新的显性致病变异。突变是遗传性耳聋最常见的原因。已经发现了许多致病性变异，因此，需要鉴定的新的致病性变异越来越少。在这里，我们描述了一个与中国一个家族的显性遗传性耳聋相关的新的致病性变异。
