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Article

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

Human mutation - 1 Jan 1999

López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés M L, Estivill X

Abstract excerpt

Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS) has been mapped to chromosome 7q22-q31, and encodes a chloride-iodide transport protein. We performed mutation analysis of individual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10571950
DOI: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.PMID 10571950Read ↗

Molecular analysis of the PDS gene in 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 ↗

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Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.Semantic proximity Read ↗

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

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.Semantic proximity Read ↗

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].Semantic proximity Read ↗

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.Semantic proximity Read ↗

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.Semantic proximity Read ↗

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

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.Semantic proximity Read ↗

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