Medical Genetics in the Clinical Practice of ORL

Editor(s): Alford R.L. (Houston, Tex.) 
Sutton V.R. (Houston, Tex.) 
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Hereditary Hearing Loss with Thyroid Abnormalities

Choi B.Y.a · Muskett J.b · King K.A.b · Zalewski C.K.b · Shawker T.c · Reynolds J.C.d · Butman J.A.c · Brewer C.C.b · Stewart A.K.e · Alper S.L.e · Griffith A.J.b
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 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)


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.


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