Pendred syndrome

Common Name(s)

Pendred syndrome

Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pendred syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pendred syndrome" returned 36 free, full-text research articles on human participants. First 3 results:

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
 

Author(s): Lip Min Soh, Maralyn Druce, Ashley B Grossman, Ann-Marie Differ, Liala Rajput, Maria Bitner-Glindzicz, Márta Korbonits

Journal: Eur. J. Endocrinol.. 2015 Feb;172(2):217-26.

 

Patients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular aqueducts are often subjected to repeated investigations when tests for mutations in SLC26A4 are abnormal. This study provides ...

Last Updated: 10 Jan 2015

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CT-scans of cochlear implant patients with characteristics of Pendred syndrome.
 

Author(s): Sebastian Roesch, Gerhard Moser, Gerd Rasp, Miklós Tóth

Journal: Cell. Physiol. Biochem.. 2013 ;32(7):166-72.

 

Sensorineural hearing loss (SNHL) in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms. In case of present retrocochlear function' cochlear implantation allows speech and cognitive development in affected children, ...

Last Updated: 16 Jan 2014

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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
 

Author(s): Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz

Journal:

 

Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis ...

Last Updated: 26 Aug 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pendred syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
 

Author(s): Silvia Dossena, Simona Rodighiero, Valeria Vezzoli, Charity Nofziger, Elisabetta Salvioni, Marta Boccazzi, Elisabeth Grabmayer, Guido Bottà, Giuliano Meyer, Laura Fugazzola, Paolo Beck-Peccoz, Markus Paulmichl

Journal: J. Mol. Endocrinol.. 2009 Sep;43(3):93-103.

 

Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This protein localizes to the cellular membrane and permits the exchange of anions between the cytosol and extracellular ...

Last Updated: 11 Aug 2009

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Pendred syndrome.
 

Author(s): W Reardon, R C Trembath

Journal: J. Med. Genet.. 1996 Dec;33(12):1037-40.

 

Last Updated: 26 Mar 1997

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.