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Article

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

The Journal of clinical endocrinology and metabolism - 1 Nov 2004

Napiontek Ulrike, Borck Guntram, Müller-Forell Wiebke, Pfarr Nicole, Bohnert Andrea, Keilmann Annerose, Pohlenz Joachim

Abstract excerpt

Pendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter. To investigate a possible...

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Source

Identifiers

PMID: 15531480
DOI: 10.1210/jc.2004-1013

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.PMID 15531480Read ↗

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Semantic proximity Read ↗

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.Semantic proximity Read ↗

Novel mutations in the SLC26A4 gene.Semantic proximity Read ↗

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.Semantic proximity Read ↗

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome.Semantic proximity Read ↗

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.Semantic proximity Read ↗

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.Semantic proximity Read ↗

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.Semantic proximity Read ↗

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.Semantic proximity Read ↗

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.Semantic proximity Read ↗

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.Semantic proximity Read ↗

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