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Article

Novel mutations in the SLC26A4 gene.

International journal of pediatric otorhinolaryngology - 1 Sept 2012

Busi Micol, Castiglione Alessandro, Taddei Masieri Marina, Ravani Anna, Guaran Valeria, Astolfi Laura, Trevisi Patrizia, Ferlini Alessandra, Martini Alessandro

Abstract excerpt

OBJECTIVES: Mutations in the SLC26A4 gene (7q22.3-7q31.1) are considered one of the most common causes of genetic hearing loss. There are two clinical forms related to these mutations: syndromic and non-syndromic deafness. The first one is named Pendred Syndrome (PS) when deafness is associated with thyroid goiter; the second is called DFNB4, when no other symptoms are present. Both are transmitted as an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22717225
DOI: 10.1016/j.ijporl.2012.05.014

Genes

GJB2
GJB6

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.

Related research

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Novel mutations in the SLC26A4 gene.PMID 22717225Read ↗

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.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 ↗

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.Semantic proximity Read ↗

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

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.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 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.Semantic proximity Read ↗

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

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

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