publication . Article . 2004

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

Lorraine A. Everett; Benjamin Glaser; John S. Beck; Jacquelyn R. Idol; Andreas Buchs; Ma’ayan Heyman; Faiad Adawi; Elizur Hazani; Elias Nassir; Andreas D. Baxevanis; ...
Open Access
  • Published: 18 Aug 2004 Journal: Nature Genetics, volume 17, pages 411-422 (issn: 1061-4036, eissn: 1546-1718, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
None: 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...
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Subjects
Medical Subject Headings: otorhinolaryngologic diseases
free text keywords: Genetics, FOXI1, SLC26A3, biology.protein, biology, Genetics, Pendrin, Congenital chloride diarrhea, medicine.disease, medicine, Positional cloning, Thyroid dyshormonogenesis, Pendred syndrome, KCNJ10
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Abstract
None: 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...
Persistent Identifiers
Subjects
Medical Subject Headings: otorhinolaryngologic diseases
free text keywords: Genetics, FOXI1, SLC26A3, biology.protein, biology, Genetics, Pendrin, Congenital chloride diarrhea, medicine.disease, medicine, Positional cloning, Thyroid dyshormonogenesis, Pendred syndrome, KCNJ10
Related Organizations
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