Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7.
Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss. For CNV analysis, we employed a specialized method of Ion AmpliSeq sequencing, and confirmed the CNV results via custom array comparative genomic hybridization. We identified 17 probands with STRC homozygous deletions. The prevalence of STRC homozygous deletions was 1.7% in the hearing loss population overall, and 4.3% among mild-to-moderate hearing loss patients. A 2.63% carrier deletion rate was identified in both the hearing loss and the control population with normal hearing. In conclusion, our results show that STRC deletions are the second most common cause of mild-to-moderate hearing loss after the GJB2 gene, which accounts for the majority of genetic hearing loss. The phenotype of hearing loss is congenital and appears to be moderate, and is most likely to be stable without deterioration even after the age of 50. The present study highlights the importance of the STRC gene as a major cause of mild-to-moderate hearing loss.
感音神经性听力损失是一种常见的缺陷，主要由遗传因素引起。最近，STRG 基因中的拷贝数变异（CNVs）也被认为是遗传性听力损失的主要原因。我们调查了 STRC 缺失在日本人群中的频率以及相关听力损失的特征。为了进行 CNV 分析，我们采用了 Ion AmpliSeq 测序的专门方法，并通过定制的阵列比较基因组杂交来确认 CNV 结果。我们确定了 17 名 STRC 纯合缺失的先证者。STRG 纯合缺失在所有听力损失人群中的患病率为 1.7%，在轻度至中度听力损失患者中的患病率为 4.3%。在听力损失和正常听力的对照组人群中，均发现 2.63%的携带者缺失率。总之，我们的研究结果表明，STRG 缺失是继 GJB2 基因之后导致轻度至中度听力损失的第二大常见原因，占遗传性听力损失的大部分。听力损失的表型为先天性，表现为中度，并且即使在 50 岁以后也很可能稳定，不会恶化。本研究强调了 STRC 基因作为轻度至中度听力损失主要原因的重要性。
