Markova Tatiana, Alekseeva Natalia, Lalayants Maria, Ryzhkova Oxana, Shatokhina Olga, Galeeva Nailya, Bliznetz Elena, Belov Oleg, Chibisova Svetlana, Polyakov Alexander, Tavartkiladze George
National Research Centre for Audiology and Hearing Rehabilitation, 117513 Moscow, Russia.
Russian Medical Academy of Continuous Professional Education, 125993 Moscow, Russia.
J Pers Med. 2022 Nov 4;12(11):1843. doi: 10.3390/jpm12111843.
Congenital and early onset bilateral sensorineural hearing loss (SNHL) is mainly caused by mutations in numerous genes. The introduction of universal newborn hearing screening (UNHS) has increased the number of infants with mild, moderate, and moderate-to-severe sensorineural hearing loss (SNHL) detected in the first year of life. We aimed to evaluate the audiological features in patients with mild, moderate, and moderate-to-severe SNHL according to genotype. Audiological and genetic data were analyzed for 251 patients and their relatives with congenital bilateral mild, moderate, and moderate-to-severe SNHL. Hearing loss severity, audiogram profile, interaural symmetry, and dynamics of hearing thresholds were analyzed. In this case, 165 patients had gene mutations, 30 patients were identified with mutations, and 16 patients had pathogenic or likely pathogenic mutations. The presence of at least one non-truncating variant in genotype led to less severe hearing impairment. The flat and gently sloping audiogram profiles were mostly revealed in all groups. The follow-up revealed the stability of hearing thresholds. , , and pathogenic variants were detected in most patients in our cohort and were congenital in most cases.
先天性及早发性双侧感音神经性听力损失（SNHL）主要由众多基因的突变引起。普遍新生儿听力筛查（UNHS）的引入增加了在生命第一年检测出的轻度、中度以及中度至重度感音神经性听力损失（SNHL）婴儿的数量。我们旨在根据基因型评估轻度、中度以及中度至重度SNHL患者的听力学特征。对251例先天性双侧轻度、中度以及中度至重度SNHL患者及其亲属的听力学和基因数据进行了分析。分析了听力损失严重程度、听力图特征、双耳对称性以及听力阈值动态变化。在本研究中，165例患者存在 基因突变，30例患者被鉴定为 突变，16例患者存在致病性或可能致病性 突变。基因型中至少存在一个 非截断变异导致听力损害较轻。所有组中大多呈现平坦和轻度倾斜的听力图特征。随访显示听力阈值稳定。在我们的队列中，大多数患者检测到 、 和 致病性变异，且大多数情况下为先天性。
