Publication Name	World Journal of Otorhinolaryngology
Manuscript ID	1586
Country	United States

Received	2012-12-21 06:47
Peer-Review Started	2012-12-22 16:43
First Decision by Editorial Office Director
Return for Revision	2013-03-27 10:35
Revised	2013-04-05 00:18
Publication Fee Transferred
Second Decision by Editor	2013-06-13 08:57
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2013-06-13 09:59
Articles in Press
Edit the Manuscript by Language Editor
Typeset the Manuscript	2013-07-15 14:18
Publish the Manuscript Online	2013-07-18 18:53

ISSN	2218-6247 (online)
Open Access
Copyright
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Publisher	Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website	http://www.wjgnet.com

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

Full Article (PDF)	WJO-3-26.pdf
Manuscript File	1586-Review.docx
Answering Reviewers	1586-Answering reviewers.docx
Copyright License Agreement	1586-Copyright assignment.pdf
Peer-review Report	1586-Peer review(s).docx