Intrafamilial variability of the deafness and goiter phenotype in pendred syndrome caused by a T416P mutation in the SLC26A4 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 11, 2004, Pages 5347-5351

  Napiontek, Ulrike ^a   Borck, Guntram ^b   Müller Forell, Wiebke ^a   Pfarr, Nicole ^a   Bohnert, Andrea ^a   Keilmann, Annerose ^a   Pohlenz, Joachim ^a,c  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; GOITER; HUMAN; INNER EAR MALFORMATION; MALE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; THYROID WEIGHT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEAFNESS; FEMALE; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; SYNDROME; THYROID GLAND;

EID: 8744266383     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1013     Document Type: Article

References (37)

1. Reardon W, Trembath RC 1996 Pendred syndrome. J Med Genet 33:1037-1040
2. Luxon LM, Cohen M, Coffey RA, Phelps PD, Britton KE, Jan H, Trembath RC, Reardon W 2003 Neuro-otological findings in Pendred syndrome. Int J Audiol 42:82-88
3. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W 1998 Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268-273
4. Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall-Taylor P, Trembath R 1999 Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 36:595-598
5. Kopp P 2000 Pendred's syndrome and genetic defects in thyroid hormone synthesis. Rev Endocr Metab Disord 1:109-121
6. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED 1997 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422
7. Bidart JM, Mian C, Lazar V, Russo D, Filetti S, Caillou B, Schlumberger M 2000 Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. J Clin Endocrinol Metab 85:2028-2033
8. Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED 2001 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 98:4221-4226
9. Everett LA, Morsli H, Wu DK, Green ED 1999 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 96:9727-9732
10. Mount DB, Romero MF 2004 The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch 447:710-721
11. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP 1999 The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-443
12. Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED 2000 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 FRTL-5 cells. Endocrinology 141:839-845
13. Yoshida A, Taniguchi S, Hisatome I, Royaux IE, Green ED, Kohn LD, Suzuki K 2002 Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells. J Clin Endocrinol Metab 87:3356-3361
14. Gillam MP, Sidhaye AR, Lee EJ, Rutishauser J, Stephan CW, Kopp P 2004 Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. J Biol Chem 279:13004-13010
15. Royaux IE, Belyantseva IA, Wu T, Kachar B, Everett LA, Marcus DC, Green ED 2003 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 4:394-404
16. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER 1998 A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215-217
17. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ 1999 Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
18. Reardon W, O'Mahoney CF, Trembath R, Jan H, Phelps PD 2000 Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. QJM 93:99-104
19. Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ 2003 Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40:242-248
20. Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J 2003 Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab 88:2916-2921
21. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC 1998 Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7:1105-1112
22. Stone JA, Chakeres DW, Schmalbrock P 1998 High-resolution MR imaging of the auditory pathway. Magn Reson Imaging Clin North Am 6:195-217
23. Kollias SS 2004 Imaging of the congenitally malformed temporal bone. In: Lemmerling M, Kollias SS, eds. Radiology of the petrous bone. Berlin, Heidelberg, New York: Springer; 99-127
24. Masmoudi S, Charfedine I, Hmani M, Grafi M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H 2000 Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet 90:38-44
25. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G 1998 Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 7:1099-1104
26. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ 2001 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenorype correlations. Hum Mutat 17:403-411
27. Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ 2004 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet 124A:1-9
28. Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC 2000 Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 9:1709-1715
29. Rotman-Pikielny P, Hirschberg K, Maruvada P, Suzuki K, Royaux IE, Green ED, Kohn LD, Lippincott-Schwartz J, Yen PM 2002 Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum Mol Genet 11:2625-2633
30. Naganawa S, Koshikawa T, Fukatsu H, Ishigaki T, Sato E, Sugiura M, Yoshino T, Nakashima T 2004 Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. Magn Reson Imaging 22:25-30
31. Sato E, Nakashima T, Miura Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M 2001 Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. Eur J Endocrinol 145:697-703
32. Smith RJ, Robin NH 2002 Genetic testing for deafness - GJB2 and SLC26A4 as causes of deafness. J Commun Disord 35:367-377
33. Johnsen T, Sorensen MS, Feldt-Rasmussen U, Friis J 1989 The variable intrafamiliar expressivity in Pendred's syndrome. Clin Otolaryngol 14:395-399
34. Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T 2001 Long-term audiological feature in Pendred syndrome caused by PDS mutation. Arch Otolaryngol Head Neck Surg 127:705-708
35. Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, Weber G, Persani L, Beck-Peccoz P 2000 Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. J Clin Endocrinol Metab 85:2469-2475
36. Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED 2001 Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153-161
37. Hulander M, Kiernan AE, Blomqvist SR, Carlsson P, Samuelsson EJ, Johansson BR, Steel KP, Enerback S 2003 Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 130:2013-2025