Enlarged vestibular aqueduct: A radiological marker of Pendred syndrome, and mutation of the PDS gene

QJM: An International Journal of Medicine

Volumn 93, Issue 2, 2000, Pages 99-104

  Reardon, W ^a   O Mahoney, C F ^b   Trembath, R ^c   Jan, H ^d   Phelps, P D ^e  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b Children's University Hospital   (Ireland)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^e ROYAL NATIONAL THROAT NOSE AND EAR HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PENDRIN; PERCHLORATE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GOITER; HEARING IMPAIRMENT; HUMAN; INFANT; INNER EAR MALFORMATION; MAJOR CLINICAL STUDY; MALE; PENDRED SYNDROME; PRIORITY JOURNAL; RADIODIAGNOSIS; VESTIBULE AQUEDUCT;

EID: 0033964071     PISSN: 14602725     EISSN: None     Source Type: Journal    
DOI: 10.1093/qjmed/93.2.99     Document Type: Article

References (34)

1. Valvassori GE, Clemis JD. The large vestibular aqueduct syndrome. Laryngoscope 1978; 88:723-8.
2. Emmett JR. The large vestibular aqueduct syndrome. Am J Otol 1985; 6:387-403.
3. Jackler RK, De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope 1989; 99:1238-43.
4. Levenson MJ, Parisier SC, Jacobs M, Edelstein DR. The large vestibular aqueduct syndrome in children. Arch Otol Head Neck Surg 1989; 115:54-8.
5. Phelps PD. Large vestibular aqueduct: large endolymphatic sac? J Laryngol Otol 1996; 110:1103-4.
6. Swartz JD, Yussen PS, Mandel DW, et al. The vestibular aqueduct syndrome: computed tomographic appearance. Clin Radiol 1985; 36:251-3.
7. Phelps PD, Lloyd GAS. Diagnostic imaging of the ear, 2nd edn. London, Springer-Verlag, 1989.
8. Swartz JD, Harnsberger H Ric. Imaging of the temporal bone, 3rd edn. New York, Thieme, 1998.
9. Arcand P, Desrosiers M, Dube J, Abela A. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 1991; 20:247-50.
10. Schessel DA, Nedzelski JM. Presentation of large vestibular aqueduct syndrome to a dizziness unit. J Otolaryngol 1992; 21:265-9.
11. Hill JH, Freint AJ, Mafee MF. Enlargement of the vestibular aqueduct. Am J Otolaryngol 1984; 5:411-4.
12. Okomura T, Takahashi H, Honjo I, et al. Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope 1995; 105:289-94.
13. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall Taylor P, Graham JM, Cadge BA, Stephens SGD, Pembrey ME, Reardon W. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998; 53:268-73.
14. Pendred V. Deaf mutism and goitre. Lancet 1896; 11:532.
15. Fraser GR. Association of congenital deafness with goitre (Pendred's syndrome). Ann Hum Genet 1965; 28:201-48.
16. Reardon W, Coffey R, Chowdhury T, Grossman A, Britton K, Kendall-Taylor P, Trembath R. Prevalence, age of onset and natural history of thyroid disease in Pendred syndrome. J Med Genet 1999; 36:595-8.
17. Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R. Pendred syndrome - 100 years of underascertainment? Q J Med 1997; 90:443-7.
18. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genetics 1997; 17:411-22.
19. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJM, Dietrich NL, Ramesh A, Srisailapathy SCR, Parving A, Cremers CWRJ, Willems PJ, Smith RJH, Green ED, Van Camp G. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 1998; 7:1099-104.
20. Coyle B, Reardon W, Herbrick J-A, Tsui L-C, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon LM, Kendall-Taylor P, Scherer SW, Trembath RC. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). Hum Mol Genet 1998; 7:1105-12.
21. Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gerbarski SS. Familial Large vestibular Aqueduct Syndrome. Laryngoscope 1996; 106:960-5.
22. Abe S, Usami S, Shinkawa H. Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct. Ann Otol Rhinol Laryngol 1997; 106:1063-9.
23. Satoh H, Nonomura N, Takahashi S. Four cases of familial hearing loss with large vestibular aqueducts. Wur Arch Otorhinolaryngol 1999; 256:83-6.
24. Morgans ME, Trotter WR. Association of congenital deafness with goitre. The nature of the thyroid defect. Lancet 1958; 1:607-9.
25. Fraser GR, Morgans ME, Trotter WR. The syndrome of sporadic goitre and congenital deafness. QJM 1960; 29:279-95.
26. Chen A, Francis M, Ni L, Cremers CWRJ, Kimberling WJ, Sato Y, Phelps PD, Bellman SC, Wagner M, Pembrey ME, Smith RJH. Phenotypic manifestations of Branchiootorenal syndrome. Am J Med Genet 1995; 58:365-70.
27. Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Fluctuation sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet 1999; 82:322-8.
28. Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat Gen 1998; 18:215-17.
29. Usami S, Abe S, Weston MD, Shinkawa H, VanCamp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Human Genetics 1999; 104:188-92.
30. Tong KA, Harnsberger HR, Dahlen RT, Carey JC, Ward K. Large vestibular aqueduct syndrome: a genetic disease? Am J Roentol 1997; 168:1097-101.
31. O Mahoney CF, Luxon LM, Chew SL, Wass J. When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred's syndrome. J Audiol Med 1996; 5:157-65.
32. Reardon W, Coffey R, Pembrey ME, Rajput K, Phelps PD, Luxon LM, Britton KE, Grossman A, Kendall-Taylor P, Trembath RC. Pitfalls in practice - diagnosis and misdiagnosis in Pendred syndrome. J Audiol Med 1997; 6:1-9.
33. Human Gene Mutation Database Cardiff. www.uwcm.ac.uk/uwcm/mg
34. Scott DA, Wang R, Kreman TM, Sheffield VC, Karnishki LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genetics 1999; 21:440-3.