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Article

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Genes - 1 Oct 2021

Tesolin Paola, Fiorino Sofia, Lenarduzzi Stefania, Rubinato Elisa, Cattaruzzi Elisabetta, Ammar Lydie, Castro Veronica, Orzan Eva, Granata Claudio, Dell'Orco Daniele, Morgan Anna, Girotto Giorgia

Abstract excerpt

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological...

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Identifiers

PMID: 34680964
DOI: 10.3390/genes12101569
PMCID: PMC8535891

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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.PMID 34680964Read ↗

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

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

Novel mutations in the SLC26A4 gene.Semantic proximity Read ↗

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.Semantic proximity Read ↗

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

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