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
  • Publisher: Springer Nature
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, Pendred syndrome, medicine.disease, medicine, FOXI1, KCNJ10, biology.protein, biology, SLC26A3, Positional cloning, Pendrin, Thyroid dyshormonogenesis, Congenital chloride diarrhea
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, Pendred syndrome, medicine.disease, medicine, FOXI1, KCNJ10, biology.protein, biology, SLC26A3, Positional cloning, Pendrin, Thyroid dyshormonogenesis, Congenital chloride diarrhea
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