The Pendred syndrome gene encodes a chloride-iodide transport protein

Abstract

Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre^1,2,3. This disorder was mapped to chromosome 7 and the gene causing Pendred syndrome (PDS) was subsequently identified by positional cloning^4,5,6. PDS encodes a putative transmembrane protein designated pendrin. Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate-anion transporter⁷ (encoded by Sat-1; 29% amino acid sequence identity), the human diastrophic dysplasia sulfate transporter⁸ (encoded by DTD; 32%) and the human sulfate transporter 'downregulated in adenoma'^9,10 (encoded by DRA; 45%). On the basis of this homology and the presence of a slightly modified sulfate-transporter signature sequence comprising its putative second transmembrane domain^{6,7,<a data-track="click" data-track-action="reference anchor" data-track-label="link" data-test="citation-ref" aria-label="Reference 8" title="Hastbacka, J. et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78,1073–1087 ( 1994)." href="/articles/ng0499_440#ref-CR8"...}