Pendred Syndrome

2006 ◽  
pp. 154-168
Author(s):  
Sameer Kassem ◽  
Benjamin Glaser
Keyword(s):  
Pendred Syndrome

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

2012 ◽  
Vol 351 (2) ◽  
pp. 342-350 ◽  
Author(s):  
Valentina Cirello ◽  
Claudia Bazzini ◽  
Valeria Vezzoli ◽  
Marina Muzza ◽  
Simona Rodighiero ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Nonsyndromic Hearing Loss ◽  
Pendred Syndrome ◽  
Functional Studies ◽  
Candidate Loci

scholarly journals Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

2008 ◽  
Vol 93 (1) ◽  
pp. 267-277 ◽  
Author(s):  
Fernando Palos ◽  
María E. R. García-Rendueles ◽  
David Araujo-Vilar ◽  
Maria Jesús Obregon ◽  
Rosa Maria Calvo ◽  
...  
Keyword(s):  
Outcome Measures ◽  
Molecular Mechanisms ◽  
Novel Mutation ◽  
Thyroid Tissue ◽  
Iodine Uptake ◽  
Incomplete Penetrance ◽  
Pendred Syndrome ◽  
Iodothyronine Deiodinase ◽  
Large Goiter ◽  
Iodine Retention

Abstract Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but normal TSH and free T3 (FT3). In family B, some affected members showed deafness but not goiter. Objective: Our objective was to identify the mutations causing PS and molecular mechanisms underlying the thyroid phenotypes. Interventions: Interventions included extraction of DNA and of thyroid tissue. Patients: Propositi and 10 members of the two families participated in the study. Main Outcome Measures: Main outcome measures included SLC26A4 gene analysis, deiodinase activities in thyroid tissue, and c.416–1G→A effects on SLC26A4 splicing. In addition, a primary PS thyrocyte culture, T-PS2, was obtained from propositus B and compared with another culture of normal human thyrocytes, NT, by Western blotting, confocal microscopy, and iodine uptake kinetics. Results: Proposita A was heterozygous for c.578C→T and c.279delT, presented with goiter, and had normal TSH and FT3 but low FT4 attributable to high type 1 and type 2 iodothyronine deiodinase activities in the goiter. Propositus B bore c.279delT and a novel mutation c.416–1G→A; some deaf relatives were homozygous for c.416–1G→A but did not present goiter. The c.279delT mutation was associated with identical haplotype in the two families. T-PS2 showed truncated pendrin retained intracellularly and high iodine uptake with low efflux leading to iodine retention. Conclusions: c.279delT is a founder mutation in Galicia. Proposita A adapted to poor organification by increasing deiodinase activities in the goiter, avoiding hypothyroidism. Lack of goiter in subjects homozygous for c.416–1G→A was due to incomplete penetrance allowing synthesis of some wild-type pendrin. Intracellular iodine retention, as seen in T-PS2, could play a role in thyroid alterations in PS.

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 ◽  
Vol 124 (5) ◽  
pp. 501 ◽  
Author(s):  
Cor W. R. J. Cremers ◽  
Cuny Bolder ◽  
Ronald J. C. Admiraal ◽  
Lorraine A. Everett ◽  
Frank B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Vestibular Aqueduct

scholarly journals The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents

2005 ◽  
Vol 153 (5) ◽  
pp. 693-699 ◽  
Author(s):  
Silvia Dossena ◽  
Antonella Maccagni ◽  
Valeria Vezzoli ◽  
Claudia Bazzini ◽  
Maria Lisa Garavaglia ◽  
...  
Keyword(s):  
Chloride Transport ◽  
Cellular Systems ◽  
Wild Type ◽  
Human Embryonic Kidney ◽  
Pendred Syndrome ◽  
Patch Clamp Technique ◽  
Chloride Currents ◽  
Hek 293 ◽  
Prelingual Deafness ◽  
Open Question

Objective: The SLC26A4 protein (pendrin) seems to be involved in the exchange of chloride with other anions, therefore being responsible for iodide organification in the thyroid gland and the conditioning of the endolymphatic fluid in the inner ear. Malfunction of SLC26A4 leads to Pendred syndrome, characterized by mild thyroid dysfunction often associated with goiter and/or prelingual deafness. The precise function of the SLC26A4 protein, however, is still elusive. An open question is still whether the SLC26A4-induced ion exchange mechanism is electrogenic or electroneutral. Recently, it has been shown that human pendrin expressed in monkey cells leads to chloride currents. Methods: We overexpressed the human SLC26A4 isoform in HEK293 Phoenix cells and measured cationic and anionic currents by the patch-clamp technique in whole cell configuration. Results: Here we show that human pendrin expressed in human cells does not lead to the activation of chloride currents, but, in contrast, leads to an increase of cationic currents. Conclusion: Our experiments suggest that the SLC26A4-induced chloride transport is electroneutral when expressed in human cellular systems.

Townes-Brocks and Pendred syndrome in the same patient

1998 ◽  
Vol 77 (4) ◽  
pp. 330-331 ◽  
Author(s):  
Shoji Yano ◽  
Yoriko Watanabe ◽  
Makoto Yoshino ◽  
Katsumaro Aida ◽  
Hirohisa Kato
Keyword(s):  
Pendred Syndrome

scholarly journals The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

Endocrinology ◽  
2009 ◽  
Vol 150 (3) ◽  
pp. 1084-1090 ◽  
Author(s):  
Aigerim Bizhanova ◽  
Peter Kopp
Keyword(s):  
Autosomal Recessive ◽  
Sodium Iodide ◽  
Basolateral Membrane ◽  
Sensorineural Deafness ◽  
Sodium Iodide Symporter ◽  
Pendred Syndrome ◽  
Iodide Uptake ◽  
Anion Transporter ◽  
Thyroid Hormone Biosynthesis ◽  
Biallelic Mutations

Thyroid hormones are essential for normal development and metabolism. Thyroid hormone biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen, where it is organified on selected tyrosyls of thyroglobulin. Uptake of iodide into the thyrocytes is mediated by an intrinsic membrane glycoprotein, the sodium-iodide symporter (NIS), which actively cotransports two sodium cations per each iodide anion. NIS-mediated transport of iodide is driven by the electrochemical sodium gradient generated by the Na+/K+-ATPase. NIS is expressed in the thyroid, the salivary glands, gastric mucosa, and the lactating mammary gland. TSH and iodide regulate iodide accumulation by modulating NIS activity via transcriptional and posttranscriptional mechanisms. Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio. Pendrin is an anion transporter that is predominantly expressed in the inner ear, the thyroid, and the kidney. Biallelic mutations in the SLC26A4 gene lead to Pendred syndrome, an autosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide organification. In thyroid follicular cells, pendrin is expressed at the apical membrane. Functional in vitro data and the impaired iodide organification observed in patients with Pendred syndrome support a role of pendrin as an apical iodide transporter. This review shows how the sodium-iodide symporter mediates the active transport of iodide at the basolateral membrane of thyrocytes and discusses biallelic mutations in NIS and the effects of pendrin.

Pendred Syndrome

2020 ◽  
pp. 495-499
Author(s):  
Dongyou Liu
Keyword(s):  
Pendred Syndrome

Pendred Syndrome

2009 ◽  
pp. 1600-1600
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Pendred Syndrome

Digestive, Ear/Nose/Throat, and Eye Disorders

2019 ◽  
pp. 361-398
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Pathway ◽  
Alport Syndrome ◽  
Zellweger Syndrome ◽  
Pendred Syndrome ◽  
Gyrate Atrophy ◽  
Male Pattern Baldness ◽  
Eye Disorders ◽  
Growth Development ◽  
Nose And Throat

The digestive system includes the structures and organs involved in processing of foods required for growth, development, maintenance, and body repair. Most diseases affecting this system are due to infections from bacteria, viruses, protozoa, and fungi, while others are hereditary. The ear, nose, and throat (ENT) system is a complex set of structures sharing slightly interrelated mechanisms of operation. While some disorders of the ENT are hereditary, environmental influences play a big role. Diseases that affect eyesight primarily centre on three layers of the eye (sclera, choroid, and retina) which make eyesight possible. Disorders of metabolism occur when a crucial enzyme is disabled, or if a control mechanism for a metabolic pathway is affected. The chapter focuses on 14 diseases with suspected genetic causes including cystic fibrosis, diabetes, glucose-galactose malabsorption, hemochromatosis, obesity, Wilson's Disease, Zellweger syndrome, deafness, Pendred syndrome, Best Disease, glaucoma, gyrate atrophy, male pattern baldness, and Alport syndrome.

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