Hereditary hearing loss with thyroid abnormalities

Byung Yun Choi, Julie Muskett, Kelly A. King, Christopher K. Zalewski, Thomas Shawker, James C. Reynolds, John A. Butman, Carmen C. Brewer, Andrew K. Stewart, Seth L. Alper, Andrew J. Griffith

Research output: Chapter in Book/Report/Conference proceedingChapter

9 Citations (Scopus)

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.

Original languageEnglish
Title of host publicationMedical Genetics in the Clinical Practice of ORL
EditorsRaye Alford, Reid Sutton
Pages43-49
Number of pages7
DOIs
StatePublished - 14 Mar 2011

Publication series

NameAdvances in Oto-Rhino-Laryngology
Volume70
ISSN (Print)0065-3071

Fingerprint

Goiter
Hearing Loss
Thyroid Gland
Iodides
Deafness
Inner Ear
Vestibular Aqueduct
Sensorineural Hearing Loss
Bicarbonates
Hypothyroidism
Knockout Mice
Anions
Chlorides
Rehabilitation
Alleles
Genotype
Peptides
Mutation
Pendred syndrome
Enlarged Vestibular Aqueduct

Cite this

Choi, B. Y., Muskett, J., King, K. A., Zalewski, C. K., Shawker, T., Reynolds, J. C., ... Griffith, A. J. (2011). Hereditary hearing loss with thyroid abnormalities. In R. Alford, & R. Sutton (Eds.), Medical Genetics in the Clinical Practice of ORL (pp. 43-49). (Advances in Oto-Rhino-Laryngology; Vol. 70). https://doi.org/10.1159/000322469
Choi, Byung Yun ; Muskett, Julie ; King, Kelly A. ; Zalewski, Christopher K. ; Shawker, Thomas ; Reynolds, James C. ; Butman, John A. ; Brewer, Carmen C. ; Stewart, Andrew K. ; Alper, Seth L. ; Griffith, Andrew J. / Hereditary hearing loss with thyroid abnormalities. Medical Genetics in the Clinical Practice of ORL. editor / Raye Alford ; Reid Sutton. 2011. pp. 43-49 (Advances in Oto-Rhino-Laryngology).
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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.",
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Choi, BY, Muskett, J, King, KA, Zalewski, CK, Shawker, T, Reynolds, JC, Butman, JA, Brewer, CC, Stewart, AK, Alper, SL & Griffith, AJ 2011, Hereditary hearing loss with thyroid abnormalities. in R Alford & R Sutton (eds), Medical Genetics in the Clinical Practice of ORL. Advances in Oto-Rhino-Laryngology, vol. 70, pp. 43-49. https://doi.org/10.1159/000322469

Hereditary hearing loss with thyroid abnormalities. / Choi, Byung Yun; Muskett, Julie; King, Kelly A.; Zalewski, Christopher K.; Shawker, Thomas; Reynolds, James C.; Butman, John A.; Brewer, Carmen C.; Stewart, Andrew K.; Alper, Seth L.; Griffith, Andrew J.

Medical Genetics in the Clinical Practice of ORL. ed. / Raye Alford; Reid Sutton. 2011. p. 43-49 (Advances in Oto-Rhino-Laryngology; Vol. 70).

Research output: Chapter in Book/Report/Conference proceedingChapter

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AU - Reynolds, James C.

AU - Butman, John A.

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AU - Griffith, Andrew J.

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N2 - 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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Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC et al. Hereditary hearing loss with thyroid abnormalities. In Alford R, Sutton R, editors, Medical Genetics in the Clinical Practice of ORL. 2011. p. 43-49. (Advances in Oto-Rhino-Laryngology). https://doi.org/10.1159/000322469