Journal article
Pendred Syndrome
Audiological medicine, Vol.1(1), pp.71-76
01/01/2003
DOI: 10.1080/16513860310003067
Abstract
Pendred syndrome is characterized by sensorineural deafness, goitre and cochlear malformations inherited in an autosomal recessive manner. Since the syndrome was first recognized, great phenotypic variability has been noted even within families. The causative gene, SLC26A4 (also known as PDS) was recently cloned and has been shown to account for the majority of cases of Pendred syndrome. The encoded protein, pendrin, is an anion transporter that mediates the exchange of chloride, iodide and formate. In the thyroid gland, it localizes to the apical membrane of thyrocytes; in the kidney, to the cortical collecting ducts; and in the inner ear, to the external sulcus and the endolymphatic duct. Mutation screening of SLC26A4 is clinically available making a genetic diagnosis possible and facilitating genetic counselling.
Details
- Title: Subtitle
- Pendred Syndrome
- Creators
- KAREN A KöllnRICHARD JH Smith
- Resource Type
- Journal article
- Publication Details
- Audiological medicine, Vol.1(1), pp.71-76
- Publisher
- Taylor & Francis
- DOI
- 10.1080/16513860310003067
- ISSN
- 1651-386X
- eISSN
- 1651-3835
- Language
- English
- Date published
- 01/01/2003
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Otolaryngology; Internal Medicine; Iowa Neuroscience Institute
- Record Identifier
- 9984256926502771
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