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 31 free, full-text research articles on human participants. First 3 results:

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
 

Author(s): Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal

Journal:

 

Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism.

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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 1 free, full-text review articles on human participants. First 3 results:

Pendred syndrome.
 

Author(s): W Reardon, R C Trembath

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

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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