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Article

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

Nature genetics - 1 Dec 1997

Everett L A, Glaser B, Beck J C, Idol J R, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis A D, Sheffield V C, Green E D

Abstract excerpt

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...

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Identifiers

PMID: 9398842
DOI: 10.1038/ng1297-411

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).PMID 9398842Read ↗

Pendred's Syndrome: Identification of the Genetic Defect a Century After Its RecognitionSemantic proximity Read ↗

Molecular analysis of the PDS gene in Pendred syndrome.Semantic proximity Read ↗

Pendred syndrome.Semantic proximity Read ↗

Two Frequent Missense Mutations in Pendred SyndromeSemantic proximity Read ↗

Genetics and phenomics of Pendred syndrome.Semantic proximity Read ↗

[Pendrin: physiology, molecular biology and clinical importance].Semantic proximity Read ↗

Clinical and molecular characteristics of Pendred syndrome.Semantic proximity Read ↗

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).Semantic proximity Read ↗

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.Semantic proximity Read ↗

Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred SyndromeSemantic proximity Read ↗

Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid HypoplasiaSemantic proximity Read ↗

The role of pendrin in iodide regulation.Semantic proximity Read ↗

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