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Genetic testing hearing loss: The challenge of non syndromic mimics
International Journal of Pediatric Otorhinolaryngology ( IF 1.2 ) Pub Date : 2021-08-16 , DOI: 10.1016/j.ijporl.2021.110872
Catherine Gooch 1 , Natasha Rudy 2 , Richard Jh Smith 3 , Nathaniel H Robin 1
Affiliation  

Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic contribution becoming increasingly recognized. Sensorineural hearing loss has classically been viewed as either syndromic or non-syndromic. With the advent of DNA sequencing technology such as NextGen sequencing, a subcategory has arisen, that of non-syndromic mimics (NSM)s. NSMs present initially as isolated hearing loss but as the patient ages other phenotypes become evident. Early diagnosis of these conditions is imperative as patients may suffer significant morbidity and mortality from complications from their hearing loss syndrome. An example is QT prolongation in Jervell and Lange-Nielsen Syndrome. The need for genetic testing and proper genetic counseling is necessary for patients with hearing loss and testing should be done as early in life as possible.



中文翻译:

基因测试听力损失:非综合征模拟的挑战,基因测试听力损失:非综合征模拟的挑战

Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic contribution becoming increasingly recognized. Sensorineural hearing loss has classically been viewed as either syndromic or non-syndromic. With the advent of DNA sequencing technology such as NextGen sequencing, a subcategory has arisen, that of non-syndromic mimics (NSM)s. NSMs present initially as isolated hearing loss but as the patient ages other phenotypes become evident. Early diagnosis of these conditions is imperative as patients may suffer significant morbidity and mortality from complications from their hearing loss syndrome. An example is QT prolongation in Jervell and Lange-Nielsen Syndrome. The need for genetic testing and proper genetic counseling is necessary for patients with hearing loss and testing should be done as early in life as possible.

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先天性听力损失是儿童早期发病的常见原因。先天性听力障碍有多种原因,遗传贡献越来越被认可。感音神经性听力损失通常被视为综合征或非综合征。随着诸如 NextGen 测序等 DNA 测序技术的出现,出现了一个子类别,即非综合征模拟物 (NSM)。NSM 最初表现为孤立的听力损失,但随着患者年龄的增长,其他表型变得明显。这些疾病的早期诊断是必要的,因为患者可能因听力损失综合征的并发症而遭受严重的发病率和死亡率。一个例子是 Jervell 和 Lange-Nielsen 综合征中的 QT 延长。

更新日期:2021-08-23
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