Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic
复制标题
DOI：
10.1002/ajmg.a.37855
复制
发表时间：
2016-10-01
影响因子：
2
通讯作者：
Krantz, Ian D.
中科院分区：
文献类型：
--
作者：
Mehta, Devanshi;Noon, Sarah E.;Krantz, Ian D.
听力损失是儿童中相对常见的疾病，每1,000名新生儿中约有2名发生，约50%的报告诊断具有主要遗传病因。鉴于听力损失的患病率和遗传因素，再加上普遍新生儿听力筛查机构的早期诊断趋势，费城儿童医院成立了听力损失遗传学诊所，以管理个人和家庭的诊断，测试和遗传咨询。本文描述了2008年7月至2015年7月期间在听力损失遗传学诊所评估的660名听力损失诊断者的队列。为了阐明该队列中听力损失的原因，以便更好地管理和诊断，测试包括单核苷酸多态性染色体微阵列，听力损失下一代测序面板，以及其他临床测试，包括甲状腺和肾功能研究，颞骨磁共振成像和心电图。在接受评估的患者中，大多数患有双侧感音神经性听力损失，发生率为489/660（74%）。此外，612/660（93%）的患者表现为非综合征形式的听力损失（检查时未观察到其他临床结果），其中GJB 2中的致病性突变最普遍。在有综合征表现的个体中（48/660），最常见的是Usher和Waardenburg综合征。有听力损失家族史（一级亲属）的家庭有12.6%的可用信息。通过分子分析，临床检查和实验室检测，在157/660（23.8%）的个体中建立了明确的病原学诊断。(c)2016 Wiley Periodicals，Inc.
Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis with the institution of universal newborn hearing screening, The Genetics of Hearing Loss Clinic was established at The Children's Hospital of Philadelphia to manage the diagnosis, testing, and genetic counseling for individuals and families. This paper described a cohort of 660 individuals with a diagnosis of hearing loss evaluated between July 2008 and July 2015 in the Genetics of Hearing Loss Clinic. To elucidate the cause of hearing loss in this cohort for better management and prognostication, testing included single nucleotide polymorphism chromosomal microarray, hearing loss next generation sequencing panel, and additional clinical tests inclusive of thyroid and renal function studies, temporal bone magnetic resonance imaging, and electrocardiogram. Of those evaluated, most had bilateral sensorineural hearing loss, occurring in 489/660 (74%). Additionally, 612/660 (93%) of patients presented with a nonsyndromic form of hearing loss (no other observed clinical findings at the time of exam), of which pathogenic mutations in GJB2 were most prevalent. Of the individuals with syndromic manifestations (48/660), Usher and Waardenburg syndrome were most commonly observed. A family history of hearing loss (first degree relative) was present in 12.6% of families with available information. Through molecular analyses, clinical examination, and laboratory testing, a definitive etiologic diagnosis was established in 157/660 (23.8%) of individuals. (c) 2016 Wiley Periodicals, Inc.