Book chapter
148 - Genetic sensorineural hearing loss
Cummings Otolaryngology, pp.2294-2310.e5
Elsevier Health, Eighth Edition
2026
DOI: 10.1016/B978-0-443-11984-2.00157-2
Abstract
Hearing loss is the most common sensory impairment in humans. At birth, it impacts 1 in 500 births, and by the age of 80 years, 50% of individuals are affected. In developed countries, the majority (70%) of congenital sensorineural hearing loss results from a genetic cause. To date, more than 100 genes have been implicated in heritable nonsyndromic sensorineural hearing loss that can be autosomal recessive, autosomal dominant, X-linked, or mitochondrial. More than 800 syndromic forms of genetic hearing loss are known, of which many mimic nonsyndromic hearing loss. The benefits of establishing a genetic diagnosis are threefold: (1) to rule out syndromic hearing loss; (2) to obtain prognostic information that may guide subsequent evaluation, counseling, and management; and (3) to identify diagnosis-specific treatments that would be of benefit. With the advent of massively parallel sequencing techniques, genetic testing has become the first-line test to order in the evaluation of sensorineural hearing loss.
Details
- Title: Subtitle
- 148 - Genetic sensorineural hearing loss
- Creators
- Miles J. KlimaraRyan K. ThorpeRichard J.H. Smith
- Resource Type
- Book chapter
- Publication Details
- Cummings Otolaryngology, pp.2294-2310.e5
- Edition
- Eighth Edition
- DOI
- 10.1016/B978-0-443-11984-2.00157-2
- Publisher
- Elsevier Health; Philadelphia, PA
- Language
- English
- Date published
- 2026
- 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
- 9985176661202771
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