Fifteen Cases of Pendred's Syndrome: Congenital Deafness and Sporadic Goiter

Ilium, Peter; Kiaer, Henrik William; Hvidberg-Hansen, J; Søndergaard, Gunnar

doi:10.1001/archotol.1972.00770090473001

Cited by 55 publications

(17 citation statements)

References 8 publications

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“…This indicated that Pendred syndrome might account for up to 10% of hereditary hearing loss [11]. Advances in radiographic imaging of the temporal bones led to the proposal that a Mondini malformation of the cochlea should be included as an essential feature of the diagnosis [12,13]. Indeed, histological studies of Pendred syndrome temporal bones revealed an incomplete bony partition of adjacent turns of the cochlea (Mondini malformation), enlargement of the vestibular aqueduct (EVA), and a variety of membranous labyrinth abnormalities [14].…”

Section: Pendred Syndromementioning

confidence: 99%

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Ito

Choi²,

King³

et al. 2011

Cell Physiol Biochem

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Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the SLC26A4 gene. SLC26A4 mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected SLC26A4 mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.

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Section: Pendred Syndromementioning

confidence: 99%

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Ito

Choi²,

King³

et al. 2011

Cell Physiol Biochem

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“…Most Pendred syndrome patients are prelingually deaf and present a type of cochlear malformation known as the Mondini defect [Johnsen et al, 1986] and a frequent occurrence of a widened vestibular aqueduct ]. The basic defect in the thyroid gland is a less efficient organification of iodide [Morgan and Trotter, 1958;Fraser, 1965], which can be demonstrated by a perchlorate discharge test [Illum et al, 1972]. However, intrafamilial variability in Pendred syndrome with respect to the goiter and degree of hearing loss has been described in some families [Johnsen et al, 1989; reviewed in Reardon and Trembath, 1996].…”

Section: Introductionmentioning

confidence: 99%

Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome

López‐Bigas¹,

Rabionet

Cid

et al. 1999

Hum. Mutat.

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“…Pendred syndrome: clinical aspects PS (OMIM#274600) is an autosomal recessive disorder accounting for 4-10% of inherited hearing losses (Batsakis & Nishiyama 1962, Fraser 1965, Illum et al 1972, Reardon et al 1997). It was first described in 1896 as the combination of deafness and goiter (Pendred 1896), but the precise phenotype has been detailed in recent years (Masmoudi et al 2000, Campbell et al 2001, Blons et al 2004, Napiontek et al 2004) and involves two organ systems: the ear, and the thyroid gland.…”

mentioning

confidence: 99%

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

Dossena¹,

Rodighiero²,

Vezzoli³

et al. 2009

Journal of Molecular Endocrinology

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Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This protein localizes to the cellular membrane and permits the exchange of anions between the cytosol and extracellular space. In the inner ear, pendrin conditions the endolymph, allowing for the proper function of sensory cells. Understanding the relationship between the genotype and phenotype of pendrin mutations would aid clinicians to better serve PS patients-however, little is known. Here, we summarize the available data concerning SLC26A4 mutations and how they relate to transporter function. The main findings suggest that all the truncation mutations tested annihilate pendrin function, and that the addition or omission of proline, or the addition or omission of charged amino acids in the sequence of SLC26A4 result in a substantial to dramatic reduction in pendrin function.

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Fifteen Cases of Pendred's Syndrome: Congenital Deafness and Sporadic Goiter

Cited by 55 publications

References 8 publications

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

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