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Article

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

International journal of pediatric otorhinolaryngology - 1 Oct 2009

Cama Elona, Alemanno Maria Stella, Bellacchio Emanuele, Santarelli Rosamaria, Carella Massimo, Zelante Leopoldo, Palladino Teresa, Inches Ingrid, di Paola Francesco, Arslan Edoardo, Melchionda Salvatore

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same f...

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Identifiers

PMID: 19615760
DOI: 10.1016/j.ijporl.2009.06.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19615760-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.PMID 19615760Read ↗

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

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

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

Novel mutations in the SLC26A4 gene.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 ↗

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Semantic proximity Read ↗

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.Semantic proximity Read ↗

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.Semantic proximity Read ↗

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.Semantic proximity Read ↗

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.Semantic proximity Read ↗

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Semantic proximity Read ↗

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.Semantic proximity Read ↗

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