Genetics and phenomics of Pendred syndrome.
Details
Serval ID
serval:BIB_683652A7A5AE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetics and phenomics of Pendred syndrome.
Journal
Molecular and cellular endocrinology
ISSN
1872-8057 (Electronic)
ISSN-L
0303-7207
Publication state
Published
Issued date
30/06/2010
Peer-reviewed
Oui
Volume
322
Number
1-2
Pages
83-90
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Abstract
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification. Goiter development and hypothyroidism vary and appear to depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. Pendrin is mainly expressed in the thyroid, the inner ear, and the kidney. In the thyroid, pendrin localizes to the apical membrane of thyrocytes, where it may be involved in mediating iodide efflux. Loss-of-function mutations in the SLC26A4 gene are associated with a partial iodide organification defect, presumably because of a reduced iodide efflux into the follicular lumen. In the kidney, pendrin functions as a chloride/bicarbonate exchanger. In the inner ear, pendrin is important in the maintenance of a normal anion transport and the endocochlear potential. Elucidation of the function of pendrin has provided unexpected novel insights into the pathophysiology of thyroid hormone biosynthesis, chloride retention in the kidney, and composition of the endolymph.
Keywords
Goiter/genetics, Goiter/metabolism, Hearing Loss, Sensorineural/genetics, Hearing Loss, Sensorineural/metabolism, Humans, Iodides/metabolism, Membrane Transport Proteins/genetics, Membrane Transport Proteins/metabolism, Phenotype, Sulfate Transporters, Syndrome, Thyroid Gland/metabolism
Pubmed
Web of science
Create date
28/12/2020 17:00
Last modification date
29/12/2020 7:26