Pendred syndrome

Seminars in Hearing

Volumn 27, Issue 3, 2006, Pages 160-170

  Madeo, Anne C ^c   Pryor, Shannon P ^a,c   Brewer, Carmen ^b,c   Zalewski, Christopher ^c   King, Kelly ^c   Butman, John A ^d   Yang, Yandan ^c,e   Park, Hong Joon ^f   Griffith, Andrew J ^c,g  

^a Clinical Otolaryngology   (United States)

^b Audiology ^*

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e Laboratory on Gene Structure and Function

^f Soree Ear Clinic   (South Korea)

^g Hearing Section   (United States)

Author keywords

Enlarged vestibular aqueducts; Hearing loss; PDS; Pendred syndrome; SLC26A4

Indexed keywords

BRANCHIOOTORENAL SYNDROME; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; EPIDEMIC; ETHNIC GROUP; GENE; GENE IDENTIFICATION; GENE MUTATION; GOITER; HEARING LOSS; HUMAN; INNER EAR MALFORMATION; PENDRED SYNDROME; REVIEW; SLC26A4 GENE; VESTIBULE AQUEDUCT; WAARDENBURG SYNDROME;

EID: 33746603092     PISSN: 07340451     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-947283     Document Type: Review

References (75)

1. Pendred V. Deaf-Mutism and Goitre. Lancet 1896;ii:532
2. Coucke P, Van Camp G, Demirhan O, et al. The gene for Pendred syndrome is located between D7SS01 and D7S692 in a 1.7-cM region on chromosome 7q. Genomics 1997;40:48-54
3. Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422
4. Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S. Guidelines for human gene nomenclature. Genomics 2002;79:464-470
5. Ahmed ZM, Riazuddin S, Wilcox ER. The molecular genetics of Usher syndrome. Clin Genet 2003;63:431-444
6. Karet FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002;13:2178-2184
7. Bitner-Glindzicz M, Tranebjaerg L. The Jervell and Lange-Nielsen syndrome. Adv Otorhinolaryngol 2000;56:45-52
8. Schultz J. Waardenburg syndrome. Semin Hear 2006;27:171-181
9. Kalatzis V, Petit C. Branchio-oto-renal syndrome. Adv Otorhinolaryngol 2000;56:39-44
10. Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med 2003;348:2543-2556
11. Pryor SP, Demmler GJ, Madeo AC, et al. Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2005;131:388-392
12. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-443
13. Scott DA, Karniski LP. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol 2000;278: C207-C211
14. Scott DA, Wang R, Kreman TM, et al. 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 2000;9:1709-1715
15. Fraser GR. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann Hum Genet 1965;28:201-249
16. Fraser GR. Deafness with Goiter (Pendred's Syndrome). Baltimore, MD: The Johns Hopkins University Press; 1976
17. Reardon W, Coffey R, Phelps PD, et al. Pendred syndrome-100 years of underascertainment? QJM 1997;90:443-447
18. Park HJ, Shaukat S, Liu XZ, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40: 242-248
19. Reardon W, Coffey R, Chowdhury T, et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 1999;36:595-598
20. Johnsen T, Larsen C, Friis J, Hougaard-Jensen F. Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987;101:1187-1192
21. Morgans ME, Trotter WR. Association of congenital deafness with goitre: the nature of the thyroid defect. Lancet 1958;i:607-609
22. Jamal MN, Arnaout MA, Jarrar R. Pendred's syndrome: a study of patients and relatives. Ann Otol Rhinol Laryngol 1995;104:957-962
23. Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998;53:268-273
24. Andersen PE. Radiology of Pendred's syndrome. Adv Otorhinolaryngol 1974;21:9-18
25. Sennaroglu L, Saatci I. Unpartitioned versus incompletely partitioned cochleae: radiologic differentiation. Otol Neurotol 2004;25:520-529; discussion 529
26. Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-728
27. Govaerts PJ, Casselman J, Daemers K, De Ceulaer G, Somers T, Offeciers FE. Audiological findings in large vestibular aqueduct syndrome. Int J Pediatr Otorhinolaryngol 1999;51:157-164
28. Cremers CW, Admiraal RJ, Huygen PL, et al. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Int J Pediatr Otorhinolaryngol 1998;45:113-123
29. Arjmand EM, Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2004;130:1169-1174
30. Nakashima T, Ueda H, Furuhashi A, et al. Airbone gap and resonant frequency in large vestibular aqueduct syndrome. Am J Otol 2000;21:671-674
31. Sato E, Nakashima T, Lilly DJ, et al. Tympanometric findings in patients with enlarged vestibular aqueducts. Laryngoscope 2002;112:1642-1646
32. Mimura T, Sato E, Sugiura M, Yoshino T, Naganawa S, Nakashima T. Hearing loss in patients with enlarged vestibular aqueduct: airbone gap and audiological Bing test. Int J Audiol 2005;44:466-469
33. Stinckens C, Huygen PL, Joosten FB, Van Camp G, Otten B, Cremers CW. Fluctuant, progressive hearing loss associated with Meniere-like vertigo in three patients with the Pendred syndrome. Int J Pediatr Otorhinolaryngol 2001;61:207-215
34. Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T. Long-term audiological feature in Pendred syndrome caused by PDS mutation. Arch Otolaryngol Head Neck Surg 2001;127:705-708
35. Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet 1999;82:322-328
36. Luxon LM, Cohen M, Coffey RA, et al. Neurootological findings in Pendred syndrome. Int J Audiol 2003;42:82-88
37. Bergstrom L. Pendred's syndrome with atypical features. Ann Otol Rhinol Laryngol 1980;89 (2 Pt 1): 135-139
38. Das VK. Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses. J Laryngol Otol 1987;101:721-722
39. Griffith AJ, Arts A, Downs C, et al. Familial large vestibular aqueduct syndrome. Laryngoscope 1996; 106:960-965
40. Ramirez-Camacho R, Berrocal JRG, Arellano B, Trinidad A. Familial isolated unilateral large vestibular aqueduct syndrome. ORL J Otorhinolaryngol Relat Spec 2003;65:45-48
41. Madden C, Halsted M, Benton C, Greinwald J, Choo D. Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 2003;24: 625-632
42. Lai CC, Shiao AS. Chronological changes of hearing in pediatric patients with large vestibular aqueduct syndrome. Laryngoscope 2004;114:832-838
43. Swartz JD. An overview of congenital/developmental sensorineural hearing loss with emphasis on the vestibular aqueduct syndrome. Semin Ultrasound CT MR 2004;25:353-368
44. Kopp P, Arseven OK, Sabacan L, et al. Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. J Clin Endocrinol Metab 1999;84:336-341
45. Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001;17:403-411
46. Coyle B, Reardon W, Herbrick JA, et al. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998;7:1105-1112
47. Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, et al. Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol 2001;144:585-593
48. Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005;42:159-165
49. Robin NH, Dietz C, Arnold JE, Smith RJ. Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness. Arch Otolaryngol Head Neck Surg 2001;127:937-940
50. Kenen RH, Schmidt RM. Stigmatization of carrier status: social implications of heterozygote genetic screening programs. Am J Public Health 1978;68: 1116-1120
51. Van Hauwe P, Everett LA, Coucke P, et al. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998;7:1099-1104
52. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999;104: 188-192
53. Kitamura K, Takahashi K, Noguchi Y, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol 2000;120:137-141
54. Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab 2003; 88:2916-2921
55. Lopez-Bigas N, Rabionet R, de Cid R, et al. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Hum Mutat 1999;14:520-526
56. Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 2003; 11:916-922
57. Blons H, Feldmann D, Duval V, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 2004;66: 333-340
58. Wu CC, Yeh TH, Chen PJ, Hsu CJ. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 2005; 115:1060-1064
59. Park HJ, Lee SJ, Jin HS, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 2005;67:160-165
60. Mafong DD, Shin EJ, Lalwani AK. Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss. Laryngoscope 2002;112:1-7
61. Preciado DA, Lawson L, Madden C, et al. Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss. Otol Neurotol 2005;26:610-615
62. Genetic Evaluation of Congenital Hearing Loss Expert Panel. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. ACMG statement. Genet Med 2002;4:162-171
63. NIH Consensus Conference. Cochlear implants in adults and children. JAMA 1995;274:1955-1961
64. Fahy CP, Carney AS, Nikolopoulos TP, Ludman CN, Gibbin KP. Cochlear implantation in children with large vestibular aqueduct syndrome and a review of the syndrome. Int J Pediatr Otorhinolaryngol 2001;59:207-215
65. Miyamoto RT, Bichey BG, Wynne MK, Kirk KI. Cochlear implantation with large vestibular aqueduct syndrome. Laryngoscope 2002;112(7 Pt 1): 1178-1182
66. Mylanus EA, Rotteveel LJ, Leeuw RL. Congenital malformation of the inner ear and pediatric cochlear implantation. Otol Neurotol 2004;25: 308-317
67. Jackler RK, De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope 1989;99:1238-1242
68. Wilson DF, Hodgson RS, Talbot JM. Endolymphatic sac obliteration for large vestibular aqueduct syndrome. Am J Otol 1997;18:101-107
69. Everett LA, Belyantseva IA, Noben-Trauth K, et al. Targeted disruption of mouse PDS provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 2001;10: 153-161
70. Illum P, Kiaer HW, Hvidberg-Hansen J, Sondergaard G. Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter. Arch Otolaryngol 1972;96:297-304
71. Everett LA, Morsli H, Wu DK, Green ED. 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 1999;96:9727-9732
72. Sheykholeslami K, Schmerber S, Habiby Kermany M, Kaga K. Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct. Hear Res 2004;190(1-2):161-168
73. Israel J. An Introduction to Deafness: a Manual for Genetic Counselors. Washington, DC: Gallaudet University and the National Society of Genetic Counselors Special Projects Fund; 1995
74. Rosenthal ET, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet 2001;103:106-114
75. Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher HJ, Henn W. Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. Am J Med Genet A 2005;133:170-175