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. 2021 Nov:150:110872.
doi: 10.1016/j.ijporl.2021.110872. Epub 2021 Aug 16.

Genetic testing hearing loss: The challenge of non syndromic mimics

Catherine Gooch  1 , Natasha Rudy  2 , Richard Jh Smith  3 , Nathaniel H Robin  4
Affiliations

Genetic testing hearing loss: The challenge of non syndromic mimics

Catherine Gooch et al. Int J Pediatr Otorhinolaryngol. 2021 Nov.

Abstract

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.

Keywords: Genetic counseling; Hearing loss; Non-syndromic deafness; Non-syndromic mimics; Syndromic deafness.

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Conflict of interest statement

No authors have conflicts of interest.

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