Journal article
Genetic disorders of the vestibular system
Current opinion in otolaryngology & head and neck surgery, Vol.19(5), pp.397-402
10/2011
DOI: 10.1097/MOO.0b013e32834a9852
PMCID: PMC4345041
PMID: 21825995
Abstract
Purpose of review: This review highlights the current body of literature related to the genetics of inherited vestibular disorders and provides a framework for the characterization of these disorders. We emphasize peripheral causes of vestibular dysfunction and highlight recent advances in the field, point out gaps in understanding, and focus on key areas for future investigation.
Recent findings: The discovery of a modifier gene that leads to a more severe Usher syndrome phenotype calls into question the assumption that Usher syndrome is universally a monogenic disorder. Despite the use of several investigational approaches, the genetic basis of Menière's disease remains poorly understood. Evidence for a vestibular phenotype associated with DFNB1 suggests that mutations in other genes causally related to nonsyndromic hearing loss also may have an unrecognized vestibular phenotype.
Summary: Our understanding of the genetic basis for vestibular disorders is superficial. Significant challenges include defining the genetics of inherited isolated vestibular dysfunction and understanding the pathological basis of Menière's disease. However, improved characterization of inherited vestibular dysfunction, coupled with advanced genetic techniques such as targeted genome capture and massively parallel sequencing, provides an opportunity to investigate these diseases at the genetic level.
Details
- Title: Subtitle
- Genetic disorders of the vestibular system
- Creators
- Robert W Eppsteiner - Department of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinisc, Iowa City, Iowa, USARichard J H Smith - Department of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinisc, Iowa City, Iowa, USA
- Resource Type
- Journal article
- Publication Details
- Current opinion in otolaryngology & head and neck surgery, Vol.19(5), pp.397-402
- DOI
- 10.1097/MOO.0b013e32834a9852
- PMID
- 21825995
- PMCID
- PMC4345041
- NLM abbreviation
- Curr Opin Otolaryngol Head Neck Surg
- ISSN
- 1068-9508
- eISSN
- 1531-6998
- Language
- English
- Date published
- 10/2011
- 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
- 9984006338102771
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