Review
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World J Otorhinolaryngol. May 28, 2013; 3(2): 26-34
Published online May 28, 2013. doi: 10.5319/wjo.v3.i2.26
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
Taku Ito, Julie Muskett, Parna Chattaraj, Byung Yoon Choi, Kyu Yup Lee, Christopher K Zalewski, Kelly A King, Xiangming Li, Philine Wangemann, Thomas Shawker, Carmen C Brewer, Seth L Alper, Andrew J Griffith
Taku Ito, Julie Muskett, Parna Chattaraj, Kyu Yup Lee, Christopher K Zalewski, Kelly A King, Carmen C Brewer, Andrew J Griffith, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, United States
Byung Yoon Choi, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, United States
Xiangming Li, Philine Wangemann, Anatomy and Physiology Department, Kansas State University, Manhattan, KS 66506, United States
Thomas Shawker, Diagnostic Radiology Department, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States
Seth L Alper, Renal Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, United States
Author contributions: Ito T and Griffith AJ reviewed the literature and wrote the initial draft of the manuscript; Muskett J, Chattaraj P, Choi BY, Lee KY, Zalewski CK, King KA, Li X, Wangemann P, Shawker T, Brewer CC and Alper SL critically reviewed and contributed to content and revision of the article.
Supported by NIH intramural research funds Z01-DC-000039, Z01-DC-000060 and Z01-DC-000064, NIH grants R01-DK43495 and P30-DK34854, Kansas State University CVM-SMILE and the Kansas City Area Life Science Institute
Correspondence to: Andrew J Griffith, MD, PhD, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850-3320, United States. griffita@nidcd.nih.gov
Telephone: +1-301-4022829 Fax: +1-301-4027580
Received: December 21, 2012
Revised: April 25, 2013
Accepted: May 8, 2013
Published online: May 28, 2013
Core Tip

Core tip: Enlargement of the vestibular aqueduct (EVA) is a common inner ear anomaly. We review the correlation of phenotype with genotype of SLC26A4. SLC26A4 mutations are the most prevalent known cause of hearing loss associated with EVA. The number of mutated alleles is correlated with the presence or absence of a thyroid iodination defect, thyroid gland volume, severity of hearing loss, laterality (bilateral vs unilateral) of the inner ear anomaly, and probability of recurrence of EVA in a sibling. We discuss the risks and benefits of genetic testing and counseling for affected patients. These concepts may be of broad interest to otolaryngologists, audiologists and other clinicians.