Markova T G, Alekseeva N N, Mironovich O L, Bliznets E A, Lalayants M R, Polyakov A V, Tavartkiladze G A
National Resarch Center for Audiology and Hearing Rehabilitation, Moscow, Russia.
Russian Medical Academy of Postdoctoral Education of the Ministry of Health of Russia, Moscow, Russia.
Vestn Otorinolaringol. 2020;85(2):14-20. doi: 10.17116/otorino20208502114.
The description of a clinical picture and audiological features at the hearing loss caused by changes of a gene, coding protein stereocillin (MIM: 606440). Mutations in the numerous genes responsible for the inner ear proteins are the reason for congenital sensorineural hearing loss. The main cause of congenital bilateral sensorineural hearing loss in the Russian Federation are mutations in gene it reaches up 68% of cases identified in infancy. gene tests already became routine around the world. Possibilities of new methods based on sequencing of new generation (NGS, next generation sequencing) allow to conduct a research of more rare genes connected with a hearing impairment. The most often among negative patients reveal mutations and deletion of a gene of .
Full audiological examination of 5 children and one adult with a hearing loss from 2 unrelated families is provided. Mutations in gene were identified. All children are examined aged before 8 years, and 3 children failed universal audiological screening in maternity hospital, to two children screening was not carried out as they were born till 2009.
The children with the sensorineural hearing loss connected with mutations and deletion of gene failed hearing screening in maternity hospital because of the OAE is not registered, what indicates the congenital nature of a hearing loss. Recently it could not be noticed earlier because of slight increase of hearing thresholds and was regarded only as the early onset. Our data emphasize that the of thresholds from 35 to 60 dB in frequencies 0,5-4 kHz is common for mutations/deletions of gene.
The development of molecular genetics methods confirms the hereditary causes of -negative patients and expands indications for family counseling. Special approach for child with hearing loss so early revealed is necessary and the consultation of parents frightened of screening results is very important.
描述由编码蛋白质立体纤毛蛋白（MIM：606440）的基因突变导致听力损失时的临床症状和听力学特征。众多负责内耳蛋白质的基因突变是先天性感音神经性听力损失的原因。在俄罗斯联邦，先天性双侧感音神经性听力损失的主要原因是该基因突变，在婴儿期确诊的病例中，该基因突变占比高达68%。基因检测在全球已成为常规检测手段。基于新一代测序（NGS）的新方法能够对与听力障碍相关的更罕见基因进行研究。在基因检测呈阴性的患者中，最常发现的是该基因的突变和缺失。
对来自2个无亲缘关系家庭的5名儿童和1名听力损失成人进行了全面的听力学检查。确定了该基因的突变情况。所有儿童年龄均在8岁之前接受检查，其中3名儿童在妇产医院未能通过普遍的听力学筛查，另外2名儿童由于在2009年之前出生，未进行筛查。
与该基因突变和缺失相关的感音神经性听力损失儿童在妇产医院听力筛查未通过，因为耳声发射未记录到，这表明听力损失具有先天性。由于听力阈值略有升高，此前未被发现，仅被视为早发性听力损失。我们的数据强调，对于该基因突变/缺失，在0.5 - 4kHz频率范围内，35至60dB的阈值变化较为常见。
分子遗传学方法的发展证实了基因检测呈阴性患者的遗传病因，并扩大了遗传咨询的适用范围。对于如此早期就发现听力损失的儿童，需要采取特殊方法，并且对担心筛查结果的家长进行咨询非常重要。
