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Publication Name World Journal of Otorhinolaryngology
Manuscript ID 1586
Country/Territory United States
Received
2012-12-21 06:47
Peer-Review Started
2012-12-22 16:43
To Make the First Decision
2013-03-25 15:10
Return for Revision
2013-03-27 10:35
Revised
2013-04-05 00:18
Second Decision
2013-06-13 08:57
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2013-06-13 09:59
Articles in Press
Publication Fee Transferred
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
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics and 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
Scientific Editor Work List 1586-Scientific editor work list.doc