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Genetic testing hearing loss: The challenge of non syndromic mimics
- Source :
- Int J Pediatr Otorhinolaryngol
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Hearing loss
Hearing Loss, Sensorineural
Genetic counseling
Deafness
Congenital hearing loss
QT interval
Article
otorhinolaryngologic diseases
medicine
Humans
Genetic Testing
Early childhood
Genetic testing
medicine.diagnostic_test
business.industry
Sequence Analysis, DNA
General Medicine
medicine.disease
Otorhinolaryngology
Child, Preschool
Pediatrics, Perinatology and Child Health
Jervell-Lange Nielsen Syndrome
Sensorineural hearing loss
medicine.symptom
business
Non syndromic
Subjects
Details
- ISSN :
- 01655876
- Volume :
- 150
- Database :
- OpenAIRE
- Journal :
- International Journal of Pediatric Otorhinolaryngology
- Accession number :
- edsair.doi.dedup.....1d0716ae2ecad15b7fdd9bdd2113e872