| Category |
Genetics & Heredity |
| Manuscript Type |
Review |
| Article Title |
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
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 and Andrew J Griffith |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| NIH intramural research fund |
Z01-DC-000039 |
| NIH intramural research fund |
Z01-DC-000060 |
| NIH intramural research fund |
Z01-DC-000064 |
| NIH |
R01-DK43495 |
| NIH |
P30-DK34854 |
| Kansas State University CVM-SMILE and the Kansas City Area Life Science Institute |
|
|
| Corresponding Author |
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
|
| Key Words |
SLC26A4; Pendred syndrome; Genetic testing; Goiter; Hearing loss; Vestibular aqueduct; Genotype-phenotype correlation |
| 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.
|
| Publish Date |
2013-07-18 18:53 |
| Citation |
Ito T, Muskett J, Chattaraj P, Choi BY, Lee KY, Zalewski CK, King KA, Li X, Wangemann P, Shawker T, Brewer CC, Alper SL, Griffith AJ. SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. World J Otorhinolaryngol 2013; 3(2): 26-34 |
| URL |
http://www.wjgnet.com/2218-6247/full/v3/i2/26.htm |
| DOI |
http://dx.doi.org/10.5319/wjo.v3.i2.26 |
