Genetic testing hearing loss: The challenge of non syndromic mimics

Catherine Gooch; Natasha Rudy; Richard J. H Smith; Nathaniel H Robin

doi:10.1016/j.ijporl.2021.110872

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Genetic testing hearing loss: The challenge of non syndromic mimics

Journal article

Peer reviewed

Genetic testing hearing loss: The challenge of non syndromic mimics

Catherine Gooch, Natasha Rudy, Richard J. H Smith and Nathaniel H Robin

International journal of pediatric otorhinolaryngology, Vol.150, pp.110872-110872

11/01/2021

DOI: 10.1016/j.ijporl.2021.110872

PMCID: PMC8560556

PMID: 34433113

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https://www.ncbi.nlm.nih.gov/pmc/articles/8560556View

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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.

Life Sciences & Biomedicine

Otorhinolaryngology

Pediatrics

Science & Technology

Details

Title: Subtitle: Genetic testing hearing loss: The challenge of non syndromic mimics
Creators: Catherine Gooch - University of Alabama at Birmingham
Natasha Rudy - University of Alabama at Birmingham
Richard J. H Smith - University of Iowa
Nathaniel H Robin - University of Alabama at Birmingham
Resource Type: Journal article
Publication Details: International journal of pediatric otorhinolaryngology, Vol.150, pp.110872-110872
DOI: 10.1016/j.ijporl.2021.110872
PMID: 34433113
PMCID: PMC8560556
NLM abbreviation: Int J Pediatr Otorhinolaryngol
ISSN: 0165-5876
eISSN: 1872-8464
Publisher: ELSEVIER IRELAND LTD
Number of pages: 3
Grant note: DC002842; DC012049; DC017955 / NIDCDs R01's
Language: English
Date published: 11/01/2021
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984256836102771

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