Abstract：
BACKGROUND: Nowadays, due to universal newborn hearing screening (UNHS) the number of children with mild-to-moderate hearing loss diagnosed in the first year of life has increased significantly. Aside from that, identification of the genetic cause improves the genetic counselling of the families and allows to reveal possible comorbidities which may need a special approach.
OBJECTIVE: To present the characteristics of the early audiologic phenotype in hearing impaired patients with biallelic mutations in the USH2A gene based on systematic analysis of the audiological data.
METHODS: 13 patients with mutations in the USH2A gene underwent audiological examination. Most of them were found among a large group of infants with bilateral nonsyndromic sensorineural hearing loss (SNHL) examined under 12 months.
RESULTS: Eight out of eleven children failed UNHS and were initially diagnosed as having bilateral nonsyndromic SNHL. Seven children underwent an audiological assessment before the age of 9 months. The earliest audiological examination was carried out at 1 and 3 months. The children with pathogenic variants in the USH2A gene in our examined group were identified in the first year of life via UNHS. The hearing threshold levels (HTL) for the USH2A group are compactly distributed between 51.25 dB and 66.25 dB, quartiles are 54 dB and 63.4 dB, with a median of 60 dB. The audiological profile of patients with biallelic USH2A mutations differs from audiograms of patients who had STRC-related hearing loss. We have not found any significant elevation in hearing thresholds in the first decade of life. We also estimated the prevalence of the USH2A and STRC mutations among GJB2-negative infants with bilateral nonsyndromic SNHL examined under 12 months, and it was 7.5% and 16.1%, respectively.
CONCLUSIONS: According to our results, the early hearing phenotype in pediatric patients with biallelic mutations in the USH2A- gene is characterized by nonsyndromic mild-to-moderate SNHL in the first decade of life. Our results indicate that the presence of mutations in the USH2A or STRC genes can be expected in a child with congenital mild-to-moderate nonsyndromic SNHL. This information is of practical importance for parents, as they have to know the prognosis of hearing loss for their child from the very beginning. Post-screening follow-up should include adequate clinical, genetic, and social support for children and their parents.
OBJECTIVE: To present the characteristics of the early audiologic phenotype in hearing impaired patients with biallelic mutations in the USH2A gene based on systematic analysis of the audiological data.
METHODS: 13 patients with mutations in the USH2A gene underwent audiological examination. Most of them were found among a large group of infants with bilateral nonsyndromic sensorineural hearing loss (SNHL) examined under 12 months.
RESULTS: Eight out of eleven children failed UNHS and were initially diagnosed as having bilateral nonsyndromic SNHL. Seven children underwent an audiological assessment before the age of 9 months. The earliest audiological examination was carried out at 1 and 3 months. The children with pathogenic variants in the USH2A gene in our examined group were identified in the first year of life via UNHS. The hearing threshold levels (HTL) for the USH2A group are compactly distributed between 51.25 dB and 66.25 dB, quartiles are 54 dB and 63.4 dB, with a median of 60 dB. The audiological profile of patients with biallelic USH2A mutations differs from audiograms of patients who had STRC-related hearing loss. We have not found any significant elevation in hearing thresholds in the first decade of life. We also estimated the prevalence of the USH2A and STRC mutations among GJB2-negative infants with bilateral nonsyndromic SNHL examined under 12 months, and it was 7.5% and 16.1%, respectively.
CONCLUSIONS: According to our results, the early hearing phenotype in pediatric patients with biallelic mutations in the USH2A- gene is characterized by nonsyndromic mild-to-moderate SNHL in the first decade of life. Our results indicate that the presence of mutations in the USH2A or STRC genes can be expected in a child with congenital mild-to-moderate nonsyndromic SNHL. This information is of practical importance for parents, as they have to know the prognosis of hearing loss for their child from the very beginning. Post-screening follow-up should include adequate clinical, genetic, and social support for children and their parents.
摘要：
背景：如今，由于普遍的新生儿听力筛查(UNHS),在出生后第一年诊断为轻度至中度听力损失的儿童数量显著增加.除此之外,遗传原因的识别可以改善家庭的遗传咨询，并可以揭示可能需要特殊方法的合并症。
目的：通过对听力学数据的系统分析，介绍USH2A基因双等位基因突变的听力受损患者的早期听力学表型特征。
方法：13例存在USH2A基因突变的患者接受了听力学检查。其中大多数是在12个月内检查的大量双侧非综合征性感音神经性听力损失（SNHL）婴儿中发现的。
结果：11名儿童中有8名没有通过UNHS，最初被诊断为双侧非综合征SNHL。七个孩子在9个月大之前接受了听力学评估。最早的听力学检查在1个月和3个月进行。在我们检查的小组中，通过UNHS在生命的第一年鉴定了具有USH2A基因致病变异的儿童。USH2A组的听力阈值水平（HTL）在51.25dB和66.25dB之间紧密分布，四分位数为54dB和63.4dB，中位数为60dB。具有双等位基因USH2A突变的患者的听力学特征与患有STRC相关听力损失的患者的听力图不同。在生命的第一个十年中，我们没有发现听力阈值有任何显着升高。我们还估计了在12个月内检查的双侧非综合征SNHLGJB2阴性婴儿中USH2A和STRC突变的患病率。分别为7.5%和16.1%，分别。
结论：根据我们的结果，在有USH2A-基因双等位基因突变的儿科患者中,早期听力表型的特征是在生命的头10年出现非综合征性轻度至中度SNHL.我们的结果表明，在患有先天性轻度至中度非综合征SNHL的儿童中，可以预期USH2A或STRC基因突变的存在。这些信息对父母来说非常重要，因为他们必须从一开始就知道孩子听力损失的预后。筛查后的随访应包括足够的临床，遗传,以及对儿童及其父母的社会支持。
目的：通过对听力学数据的系统分析，介绍USH2A基因双等位基因突变的听力受损患者的早期听力学表型特征。
方法：13例存在USH2A基因突变的患者接受了听力学检查。其中大多数是在12个月内检查的大量双侧非综合征性感音神经性听力损失（SNHL）婴儿中发现的。
结果：11名儿童中有8名没有通过UNHS，最初被诊断为双侧非综合征SNHL。七个孩子在9个月大之前接受了听力学评估。最早的听力学检查在1个月和3个月进行。在我们检查的小组中，通过UNHS在生命的第一年鉴定了具有USH2A基因致病变异的儿童。USH2A组的听力阈值水平（HTL）在51.25dB和66.25dB之间紧密分布，四分位数为54dB和63.4dB，中位数为60dB。具有双等位基因USH2A突变的患者的听力学特征与患有STRC相关听力损失的患者的听力图不同。在生命的第一个十年中，我们没有发现听力阈值有任何显着升高。我们还估计了在12个月内检查的双侧非综合征SNHLGJB2阴性婴儿中USH2A和STRC突变的患病率。分别为7.5%和16.1%，分别。
结论：根据我们的结果，在有USH2A-基因双等位基因突变的儿科患者中,早期听力表型的特征是在生命的头10年出现非综合征性轻度至中度SNHL.我们的结果表明，在患有先天性轻度至中度非综合征SNHL的儿童中，可以预期USH2A或STRC基因突变的存在。这些信息对父母来说非常重要，因为他们必须从一开始就知道孩子听力损失的预后。筛查后的随访应包括足够的临床，遗传,以及对儿童及其父母的社会支持。
