SLC26A4 variations among Graves' hyper-functioning thyroid gland

Disease Markers

Volumn 29, Issue 2, 2010, Pages 63-69

  Hadj Kacem, Hassen ^a   Kallel, Rihab ^a   Belguith Maalej, Salima ^a   Mnif, Mouna ^b   Charfeddine, Ilhem ^c   Ghorbel, Abdelmounem ^c   Abid, Mohamed ^b   Ayadi, Hammadi ^a   Masmoudi, Saber ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

Author keywords

autoimmune thyroid disease; graves' disease; Pendred syndrome; SLC26A4

Indexed keywords

PENDRIN;

ADULT; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GRAVES DISEASE; HASHIMOTO DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; PENDRED SYNDROME; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; THYROID GLAND;

EID: 78649521009     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.1155/2010/327518     Document Type: Article

References (40)

1. L.A. Everett, B. Glaser, J.C. Beck, J.R. Idol, A. Buchs, M. Heyman, F. Adawi, E. Hazani, E. Nassir, A.D. Baxevanis, V.C. Sheffield and E.D. Green, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS), Nat Genet 17 (1997), 411-422.
2. W. Reardon and R.C. Trembath, Pendred syndrome, J Med Genet 33 (1996), 1037-1040.
3. J.M. Bidart, C. Mian, V. Lazar, D. Russo, S. Filetti, B. Caillou and M. Schlumberger, Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues, J Clin Endocrinol Metab 85 (2000), 2028-2033.
4. L.A. Everett, H.Morsli, D.K.Wu and E.D. Green. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear, Proc Natl Acad Sci USA 96 (1999), 9727-9732.
5. L. Lacroix, C. Mian, B. Caillou, M. Talbot, S. Filetti, M. Schlumberger and J.M. Bidart, Na(+)/I(-) symporter and Pendred syndrome gene and protein expressions in human extrathyroidal tissues, Eur J Endocrinol 144 (2001), 297-302.
6. J.M. Bidart, L. Lacroix, D. EvainBrion, B. Caillou, V. Lazar, R. Frydman, D. Bellet, S. Filetti and M. Schlumberger, Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells, J Clin EndocrinolMetab 85 (2000), 4367-4372.
7. K. Suzuki, I.E. Royaux, L.A. Everett, A. MoriAoki, S. Suzuki, K. Nakamura, T. Sakai, R. Katoh, S. Toda, E.D. Green and L.D. Kohn, Expression of PDS/Pds, the Pendred syndrome gene, in endometrium, J Clin Endocrinol Metab 87 (2002), 938.
8. I.E. Royaux, I.A. Belyantseva, T.Wu, B. Kachar, L.A. Everett, D.C. Marcus and E.D. Green, Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome, J Assoc Res Otolaryngol 4 (2003), 394-404.
9. I.E. Royaux, S.M.Wall, L.P. Karniski, L.A. Everett, K. Suzuki, M.A. Knepper and E.D. Green, Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion, Proc Natl Acad Sci USA 98 (2001), 4221-4226.
10. I.E. Royaux, K. Suzuki, A.Mori, R. Katoh, L.A. Everett, L.D. Kohn and E.D. Green, Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL5 cells, Endocrinology 141 (2000), 839-845.
11. P. Kopp, L. Pesce and S.J. Solis, Pendred syndrome and iodide transport in the thyroid, Trends in Endocrinology and Metabolism 19 (2008), 260-268.
12. H.H. Kacem, A. Rebai, N. Kaffel, S. Masmoudi, M. Abid and H. Ayadi, PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study, J Clin Endocrinol Metab 88 (2003), 2274-2280.
13. A. Yoshida, I. Hisatome, S. Taniguchi, Y. Shirayoshi, Y. Yamamoto, J. Miake, T. Ohkura, T. Akama, O. Igawa, C. Shigemasa, K. Kamijo, S. Ikuyama, P. Caturegli and K. Suzuki, Pendrin is a novel autoantigen recognized by patients with autoimmune thyroid diseases. J Clin Endocrin Metab 94 (2008), 4428.
14. Y. Nakagami, S. Favoreto, Jr., G. Zhen, S.W. Park, L.T. Nguyenvu, D.A. Kuperman, G.M. Dolganov, X. Huang, H.A. Boushey, P.C. Avila and D.J. Erle, The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates airway surface liquid, and increases airway reactivity and inflammation in an asthma model, J Immunol 181 (2008), 2203-2210.
15. I. Nakao, S. Kanaji, S. Ohta, H. Matsushita, K. Arima, N. Yuyama, M. Yamaya, K. Nakayama, H. Kubo, M. Watanabe, H. Sagara, K. Sugiyama, H. Tanaka, S. Toda, H. Hayashi, H. Inoue, T. Hoshino, A. Shiraki, M. Inoue, K. Suzuki, H. Aizawa, S. Okinami, H. Nagai, M. Hasegawa, T. Fukuda, E.D. Green and K. Izuhara, Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease, J Immunol 180 (2008), 6262-6269.
16. E. Di Valentin, C. Crahay, N. Garbacki, B. Hennuy, M. Guéders, A. Noël, J.M. Foidart, J.Grooten, A. Colige, J. Piette and D. Cataldo, New asthma biomarkers: lessons from murine models of acute and chronic asthma, Am J Physiol Lung Cell Mol Physiol 296 (2009), 185-197.
17. D.A.Kuperman, C.C. Lewis, P.G.Woodruff,M.W.Rodriguez, Y.H. Yang, G.M. Dolganov, J.V. Fahy and D.J. Erle, Dissecting asthma using focused transgenic modeling and functional genomics, J Allergy Clin Immunol 116 (2005), 305-311.
18. G. Zhen, S.W. Park, L.T. Nguyenvu, M.W. Rodriguez, R. Barbeau, A.C. Paquet and D.J. Erle, IL13 and epidermal growth factor receptor have critical but distinct roles in epithelial cell mucin production, Am J Respir Cell Mol Biol 36 (2007), 244-253.
19. A.C. Madeo, A. Manichaikul, S.P. Pryor and A.J. Griffith, Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? J Med Genet 46 (2009), 405-406.
20. D.B. Mount and M.F. Romero, The SLC26 gene family of multifunctional anion exchangers, Pflügers Archiv 447 (2004), 710-721.
21. A. Yoshida, S. Taniguchi, I. Hisatome, I.E. Royaux, E.D. Green, L.D. Kohn and K. Suzuki, Pendrin is an iodidespecific apical porter responsible for iodide efflux from thyroid cells, Journal of Clinical Endocrinology andMetabolism 87 (2002), 3356-3361.
22. A. Yoshida, I. Hisatome, S. Taniguchi, N. Sasaki, Y. Yamamoto, J. Miake, H. Fukui, H. Shimizu, T. Okamura and T. Okura, Mechanism of iodide/chloride exchange by pendrin, Endocrinology 145 (2004), 4301-4308.
23. M.P. Gillam, A.R. Sidhaye, E.J. Lee, J. Rutishauser, C.W. Stephan and P.Kopp, Functional characterization of pendrin in a polarized cell system. Evidence for pendrinmediated apical iodide efflux, Journal of Biological Chemistry 279 (2004), 13004-13010.
24. G.R. Fraser, Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 families, Annals of Human Genetics 28 (1965), 201-249.
25. H.J. Park, S. Shaukat, X.Z. Liu, S.H. Hahn, S. Naz,M. Ghosh, H.N. Kim, S.K. Moon, S. Abe, K. Tukamoto, S. Riazuddin, M. Kabra, R. Erdenetungalag, J. Radnaabazar, S. Khan, A. Pandya, S.I. Usami, W.E. Nance, E.R. Wilcox, S. Riazuddin and A.J. Griffith, Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness, J Med Genet 40 (2003), 242-248.
26. T. Yang, H. Vidarsson, S. RodrigoBlomqvist, S.S. Rosengren, S. Enerback and R.J. Smith, Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4), American Journal of Human Genetics 80 (2007), 1055-1063.
27. L. Fugazzola, N. Cerutti, D. Mannavola, G. Vannucchi and P. BeckPeccoz, The role of pendrin in iodide regulation, Experimental and Clinical Endocrinology and Diabetes 109 (2001), 18-22.
28. R. Grimaldi, P. Capuano, N. Miranda, C. Wagner and G. Capasso, Pendrin: physiology, molecular biology and clinical importance, Giornale Italiano di Nefrologia 24 (2007), 288-294.
29. P. Illum, H.W.Kiaer, J. HvidbergHansen and G. Sondergaard, Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter, Archives of Otolaryngology 96 (1972), 297-304.
30. K. Banghova, E. Al Taji, O. Cinek, D. Novotna, R. Pourova, J. Zapletalova, O. Hnikova and J. Lebl, Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations, Eur J Pediatr 167 (2008), 777-783.
31. K. Banghova, O. Cinek, E. Al Taji, J. Zapletalova, R. Vidura and J. Lebl, Thyroidectomy in a patient with multinodular dyshormonogenetic goitre-a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene, J Pediatr Endocrinol Metab 21 (2008), 1179-1184.
32. N. Pfarr, G. Borck, A. Turk, U. Napiontek, A. Keilmann, W. MüllerForell, P.Kopp and J. Pohlenz, Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes, J Clin Endocrinol Metab 91 (2006), 2678-2681.
33. S. Dossena, S. Rodighiero, V. Vezzoli, C. Nofziger, E. Salvioni, M. Boccazzi, E. Grabmayer, G. Bottà, G. Meyer, L. Fugazzola, P. BeckPeccoz and M. Paulmichl, Functional characterization of wildtype and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome, J Mol Endocrinol 43 (2009), 93-103.
34. H. Blons, D. Feldmann, V. Duval, O. Messaz, F. Denoyelle, N. Loundon, A. SergoutAllaoui, M. Houang, F. Duriez, D. Lacombe, B. Delobel, J. Leman, H. Catros, H. Journel, V. DrouinGarraud, M.F. Obstoy, A. Toutain, S. Oden, J.E. Toublanc, R. Couderc, C. Petit, E.N. Garabédian and S. Marlin, Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity, Clin Genet 66 (2004), 333-340.
35. S. Albert, H. Blons, L. Jonard, D. Feldmann, P. Chauvin, N. Loundon, A. SergentAllaoui, M. Houang, A. Joannard, S. Schmerber, B. Delobel, J. Leman, H. Journel, H. Catros, H. Dollfus, M.M. Eliot, A. David, C. Calais, V. DrouinGarraud, M.F. Obstoy, P. Tran Ba Huy, D. Lacombe, F. Duriez, C. Francannet, P. Bitoun, C. Petit, E.N. Garabédian, R. Couderc, S. Marlin and F. Denoyelle, SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations, Eur J Hum Genet 14 (2006), 773779.
36. P. Dai, A.K. Stewart, F. Chebib, A. Hsu, J. Rozenfeld, D. Huang, D. Kang, V. Lip, H. Fang, H. Shao, X. Liu, F. Yu, H. Yuan, M. Kenna, D.T. Miller, Y. Shen, W. Yang, I. Zelikovic, O.S. Platt, D. Han, S.L. Alper and B.L.Wu, Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss, Physiol Genomics 38 (2009), 281-290.
37. Physiol Genomics 40 (2010), 216.
38. A. Pera, S. Dossena, S. Rodighiero, M. Gandia, G. Botta, G. Meyer, F. Moreno, C. Nofziger, C. HernandezChico and M. Paulmichl, Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA, Proc Natl Acad Sci USA 105 (2008), 18608-18613.
39. B. Vaidya, R. Coffey, B. Coyle, R. Trembath, C. San Lazaro, W. Reardon and P. KendallTaylor, Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family, J Clin Endocrinol Metab 84 (1999), 2736-2738.
40. I.M. Ibrahim, D.O. McDonald, C.J. Owen, P. KendallTaylor and S.H.S. Pearce, Graves' Hyperthyroidism in a Patient with Pendred's Dyshormonogenesis, Hot thyroidology 13 (2009), 1-8.