Article
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Human molecular genetics - 1 Jul 2000
Scott D A, Wang R, Kreman T M, Andrews M, McDonald J M, Bishop J R, Smith R J, Karniski L P, Sheffield V C
Abstract excerpt
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31. A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts identified three people (15%)...
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