Ming Liang, Wang Yangxia, Lu Wei, Sun Ting
1 Key Clinical Laboratory of Henan Province, Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .
2 Department of Otology, The First Affiliated Hospital of Zhengzhou University , Zhengzhou, China .
Genet Test Mol Biomarkers. 2019 Jan;23(1):51-56. doi: 10.1089/gtmb.2018.0146. Epub 2018 Dec 27.
Hearing impairment is one of the most common neurosensory disorders afflicting humans. Approximately half of all cases have a genetic etiology. The distribution and frequency of genetic mutations that cause deafness differ significantly by ethnic group and geographic region.
130 sporadic nonsyndromic hearing loss (NSHL) children from the Henan province were subjected to microarray-based mutation detection. Nine pathogenic mutations were detected in four of the most common deafness-related genes (GJB2, GJB3, SLC26A4, and MT-RNA1).
Fifty percent of the analyzed patients (65/130) were shown to have genetic defects known to be related to deafness. Slightly >30% (41/130) had biallelic pathogenic mutations. One patient had pathogenic mutations in their mitochondrial genes (MT-RNA1); no mutations were detected in the GJB3 gene. Twenty-three (17.69%) patients were carriers of a single mutation in a recessive gene; these findings alone, however, cannot be interpreted as a cause of hearing loss. Utilizing this molecular strategy, we were able to arrive at a conclusive diagnosis for 42 of the NSHL children.
Genetic factors play a major role in sporadic NSHL patients from the Henan province, but it is clear that our screen needs to be expanded to include additional genes and alleles. Screening of potential pathogenic genes is important for patient risk assessment.
听力障碍是困扰人类的最常见神经感觉障碍之一。所有病例中约有一半具有遗传病因。导致耳聋的基因突变的分布和频率因种族和地理区域而异。
对来自河南省的130名散发性非综合征性听力损失（NSHL）儿童进行基于微阵列的突变检测。在四个最常见的耳聋相关基因（GJB2、GJB3、SLC26A4和MT-RNA1）中检测到九个致病突变。
分析的患者中有50%（65/130）被证明存在已知与耳聋相关的遗传缺陷。略多于30%（41/130）的患者有双等位基因致病突变。一名患者的线粒体基因（MT-RNA1）存在致病突变；在GJB3基因中未检测到突变。23名（17.69%）患者是隐性基因单突变的携带者；然而，仅凭这些发现不能解释为听力损失的原因。利用这种分子策略，我们能够对42名NSHL儿童做出明确诊断。
遗传因素在河南省散发性NSHL患者中起主要作用，但显然我们的筛查需要扩大到包括更多基因和等位基因。筛查潜在致病基因对患者风险评估很重要。
