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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Nature Genetics volume 17, pages 411–422 (1997)Cite this article

Abstract

Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By some estimates, the disorder may account for upwards of 10% of hereditary deafness. Previous genetic linkage studies localized the gene to a broad interval on human chromosome 7q22–31.1. Using a positional cloning strategy, we have identified the gene (PDS) mutated in Pendred syndrome and found three apparently deleterious mutations, each segregating with the disease in the respective families in which they occur. PDS produces a transcript of approximately 5 kb that was found to be expressed at significant levels only in the thyroid. The predicted protein, pendrin, is closely related to a number of known sulphate transporters. These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.

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Authors and Affiliations

  1. Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Lorraine A. Everett, Jacquelyn R. Idol, Andreas D. Baxevanis & Eric D. Green

  2. Department of Endocrinology and Metabolism, Hadassah University Hospital, Ein Karem, Jerusalem, Israel, 91120

    Benjamin Glaser, Andreas Buchs & Ma'ayan Heyman

  3. Howard Hughes Medical Institute and Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, Iowa, 52242, USA

    John C. Beck & Val C. Sheffield

  4. Department of Endocrinology, Rivka Zeev Hospital, Zafad, Israel, 16950

    Faiad Adawi

  5. Department of Internal Medicine, Western Galilee-Nahariya Hospital, Nahariya, Israel, 22100

    Elizur Hazani & Elias Nassir

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  1. Lorraine A. Everett
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Correspondence to Benjamin Glaser, Val C. Sheffield or Eric D. Green.

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Everett, L., Glaser, B., Beck, J. et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17, 411–422 (1997). https://doi.org/10.1038/ng1297-411

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