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Article

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

BMC medical genetics - 8 May 2018

Nonose Renata Watanabe, Lezirovitz Karina, de Mello Auricchio Maria Teresa Balester, Batissoco Ana Carla, Yamamoto Guilherme Lopes, Mingroni-Netto Regina Célia

Abstract excerpt

BACKGROUND: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with...

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Identifiers

PMID: 29739340
DOI: 10.1186/s12881-018-0585-x
PMCID: PMC5941635

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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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