Cover

Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford R.L. (Houston, Tex.) 
Sutton V.R. (Houston, Tex.) 
Table of Contents
Vol. 70, 2011
Section title: Paper
Alford RL, Sutton VR (eds): Medical Genetics in the Clinical Practice of ORL. Adv Otorhinolaryngol. Basel, Karger, 2011, vol 70, pp 43–49
(DOI:10.1159/000322469)

Hereditary Hearing Loss with Thyroid Abnormalities

Choi B.Y. · Muskett J. · King K.A. · Zalewski C.K. · Shawker T. · Reynolds J.C. · Butman J.A. · Brewer C.C. · Stewart A.K. · Alper S.L. · Griffith A.J.
aLaboratory of Molecular Genetics and bOtolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., cDiagnostic Radiology Department and dNuclear Medicine Department, Clinical Center, National Institutes of Health, Bethesda, Md., and eBeth Israel Deaconess Medical Center, Harvard Medical School, Boston, Mass., USA

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 7
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)

Abstract

Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the most common hereditary causes of deafness. It is characterized by autosomal-recessive inheritance of sensorineural hearing loss, enlarged vestibular aqueducts (EVA), and an iodide organification defect with or without goiter. The diagnosis is confirmed by detection of two mutant alleles of SLC26A4 in a patient with EVA. The perchlorate discharge test can detect the underlying thyroid biochemical defect and is useful for the evaluation of goiter or for the clinical diagnosis of PDS in a patient with a non-diagnostic SLC26A4 genotype. SLC26A4 encodes the pendrin polypeptide, an anion exchanger that, in recombinant expression systems, transports chloride, bicarbonate, and iodide. Investigation of pendrin function in the inner ear has been facilitated by the Slc26a4Δ (knockout) mouse model, but the exact mechanism of its hearing loss remains unclear, as does pendrin’s principal transport function in the inner ear. Treatment of PDS is focused upon rehabilitation of hearing loss, and surveillance and management of goiter and, less commonly, hypothyroidism.


  

Author Contacts

Dr. A.J. Griffith, 5 Research Court, Room 2B-28, Rockville, MD 20850 (USA), Tel. +1 301 496 1960, Fax +1 301 402 7580, E-Mail griffita@nidcd.nih.gov

  

Article Information

Published online: February 24, 2011
Number of Print Pages : 7

  

Publication Details

Book Serie: Advances in Oto-Rhino-Laryngology, Vol. 70, Year 2011

Editor(s): Arnold, W. (Munich); Randolph, G. (Boston, Mass.)
ISSN: 0065-3071 (Print), eISSN: 1662-2847 (Online)

For additional information:
http://content.karger.com/ProdukteDB/produkte.asp?issn=0065-3071

Book Title: Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford RL, Sutton VR (eds)

For additional information:
http://content.karger.com/ProdukteDB/produkte.asp?issn=0065-3071&volume=70


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 2/24/2011
Cover Date: 2011

Number of Print Pages: 7
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)


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