Research Centre for Medical Genetics, 115522 Moscow, Russia.
Presidential Perinatal Center of the Public Health Ministry of Chuvashia, Genetic Counseling Department, 428018 Cheboksary, Russia.
Genes (Basel). 2021 May 27;12(6):820. doi: 10.3390/genes12060820.
Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3():c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients (OMIM #601869). Its frequency was 25% in patients and 1.1% in healthy Chuvash population. Genotyping of the NM_133261.3():c.245A>G (p.Asn82Ser) variant in five neighboring populations from the Volga-Ural region (Russian, Udmurt, Mary, Tatar, Bushkir) found no evidence that this variant is common in those populations.
遗传性非综合征型感音神经性听力损失是一种由于内耳器官、听神经或负责感知声音的大脑中枢受损而导致听力损失的疾病，其特征是广泛的基因座和等位基因异质性以及不同类型的遗传方式。鉴于俄罗斯联邦人口的多样性，似乎有必要研究该疾病的分子病因的种族特征。本研究的目的是研究俄罗斯第五大民族楚瓦什族遗传性感音神经性听力损失的分子和遗传原因。对来自楚瓦什共和国的 21 个无关楚瓦什家族的 26 名患者的 DNA 样本进行了分析，这些患者均被诊断为遗传性感音神经性听力损失，采用靶向 Sanger 测序、多重连接依赖性探针扩增和全外显子组测序相结合的方法进行分析。NM_133261.3():c.245A>G(p.Asn82Ser)纯合变体是 23%楚瓦什患者遗传性感音神经性听力损失的主要分子病因（OMIM #601869）。在患者中的频率为 25%，在健康楚瓦什人群中的频率为 1.1%。对来自伏尔加-乌拉尔地区（俄罗斯人、乌德穆尔特人、马里人、鞑靼人、布什基尔人）的五个相邻人群的 NM_133261.3():c.245A>G(p.Asn82Ser)变体进行基因分型，没有证据表明该变体在这些人群中常见。
