Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome

International Journal of Audiology

Volumn 43, Issue 9, 2004, Pages 523-532

  Kemperman, Mathyus H ^a   Koch, Sacha M P ^a   Kumar, Shrawan ^b   Huygen, Patrick L M ^a   Joosten, Frank B M ^a   Cremers, Cor W R J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

Author keywords

Branchio oto renal syndrome; Enlarged endolymphatic duct; Fluctuant hearing loss; Inner ear anomalies; Progressive hearing loss

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; AUDIOGRAPHY; AUDIOMETRY; AUDITORY THRESHOLD; BRANCHIOOTORENAL SYNDROME; CARTILAGE HYPOPLASIA; CLINICAL ARTICLE; COCHLEA; DISEASE COURSE; DISEASE PREDISPOSITION; FEMALE; FLUCTUANT HEARING LOSS; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; MALE; NETHERLANDS; NUCLEAR MAGNETIC RESONANCE IMAGING; PETROUS BONE; PRIORITY JOURNAL; PROGRESSIVE HEARING LOSS; RETROSPECTIVE STUDY; SCHOOL CHILD; STATISTICAL ANALYSIS; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; AGE FACTORS; AGED; AUDIOMETRY, PURE-TONE; AUDITORY THRESHOLD; BRANCHIO-OTO-RENAL SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENDOLYMPHATIC DUCT; FEMALE; FOLLOW-UP STUDIES; HEARING LOSS; HUMANS; INTERVIEWS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PEDIGREE; PROTEIN-TYROSINE-PHOSPHATASE; REGRESSION ANALYSIS; RETROSPECTIVE STUDIES; TRANS-ACTIVATORS;

EID: 10644227692     PISSN: 14992027     EISSN: None     Source Type: Journal    
DOI: 10.1080/14992020400050067     Document Type: Article

References (34)

1. Abdelhak, S., Kalatzis, V, Heilig, R., Compain, S., Samson, D., et al. 1997a. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet, 15, 157-164.
2. Abdelhak, S., Kalatzis, V., Heilig, R., Compain. S., Samson, D., et al. 1997b. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYAI. Hum Mol Genet, 6, 2247-2255.
3. Anderson, H. & Barr, B. 1967. Congenital pseudo-mixed deafness. Laryngoscope, 77, 1825-1839.
4. Brusis, T. 1974. Gleichzeitiges Vorkommen von degenerativer Innenohr-schwerhörigkeit, Vestibularisstörung, beiderseitigen Ohr- und lateralen Halsfisteln bei mehreren Mitgliedern einer Familie. Z Laryngol Rhinol Otol, 53, 131-139.
5. Chen, A., Francis, M., Ni, L., Cremers, C.W.R.J., Kimberling, W.J., et al. 1995. Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet, 58, 365-370.
6. Cremers, C.W.R.J., Bolder, C., Admiraal, R.J., Everett, L.A., Joosten, F.B., et al. 1998a. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg, 124, 501-505.
7. Cremers, C.W.R.J., Admiraal, R.J.C., Huygen, P.L.M., Bolder, C., Everett, L.A., et al. 1998b. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred syndrome. Int J Pediatr Otorhinolaryngol, 45, 113-123.
8. Cremers, C.W.R.J. & Fikkers Van Noord, M. 1980. The earpits-deafness syndrome. Clinical and genetic aspects. Int J Pediatr Otorhinolaryngol, 2, 309-322.
9. Cremers, C.W.R.J., Marres, H.A. & Brunner, H.G. 1993. Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome. Laryngoscope, 103, 1186-1189.
10. Cremers, C.W.R.J., Thijssen, H.O., Fischer, A.J. & Marres, E.H. 1981. Otological aspects of the earpit-deafness syndrome. ORL J Otorhinolaryngol Relat Spec, 43, 223-239.
11. Fitch, N., Lindsay, J.R. & Srolovitz, H. 1976. The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Ann Otol Rhinol Laryngol, 85, 268-275.
12. Fourman, P. & Fourman, J. 1955. Hereditary deafness in a family with earpits (fistula auris congenita). BMJ, 2, 1354-1356.
13. Fraser, F.C., Ling, D., Clogg, D. & Nogrady, B. 1978. Genetic aspects of the BOR syndrome-branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet, 2, 241-252.
14. Fraser, F.C., Sproule, XR. & Halal, F. 1980. Frequency of the branchiooto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet, 7, 341-349.
15. Fukuda, S., Kuroda, T, Chida, E., Shimizu, R., Usami, S-i., et al. 2001. A family affected by branchio-oto syndrome with EYAI mutations. Auris Nasus Larynx, 28(suppl 1), 7-11.
16. Jackler, R.K. & De La Cruz, A. 1989. The large vestibular aqueduct syndrome. Laryngoscope, 99, 1238-1242.
17. Kalatzis, V., Sahly, I., El Amraoui, A. & Petit, C. 1998. Eyal expression in the developing ear and kidney: towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome. Dev Dyn, 213, 486-99.
18. Kemperman, M.H., Koch, S.M.P., Joosten, F.B.M., Kumar, S., Huygen, P.L.M., et al. 2002. Inner-ear anomalies, frequent but nonobligatory features of the branchio-oto-renal syndrome. Arch Otolaryngol Head Neck Surg, 128, 1033-1038.
19. Kemperman, M.H., Stinckens, C., Kumar, S., Huygen, P.L.M., Joosten. F.B.M., et al. 2001. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. Otol Neurotol, 22, 637-643.
20. Kumar, S., Deffenbacher, K., Cremers, C.W.R.J., Van Camp, G. & Kimberling, W.J. 1997. Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. Genetic Testing, 1, 243-251.
21. Kumar, S., Deffenbacher, K., Marres, H.A.M., Cremers, C.W.R.J. & Kimberling, W.J. 2000. Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-otorenal syndrome: clinical and genetic implications. Am J Hum Genet. 66, 1715-1720.
22. Kumar, S., Kimberling, W.J., Weston, M.D., Schaefer, B.C., Berg, M.A., et al. 1998. Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. Hum Mutat, 11, 443-449.
23. Levenson, M.J., Parisier, S.C., Jacobs, M. & Edelstein, D.R. 1989. The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity. Arch Otolaryngol Head Neck Surg, 115, 54-58.
24. Melnick, M., Bixler, D., Nance, W.E., Silk, K. & Yune, H. 1976. Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet, 9, 25-34.
25. Naganawa, S., Koshikawa, T., Iwayama, E., Fukatsu, H., Ishiguchi. T., et al. 2000. MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlear modiolus. Am J Neuroradiol, 21, 1664-1669.
26. Nakashima, T., Ueda, H., Furuhashi, A., Sato, E.. Asahi, K., et al. 2000. Air-bone gap and resonant frequency in large vestibular aqueduct syndrome. Am J Otol, 21, 671-674.
27. Okumura, T., Takahashi, H., Honjo, I., Naito, Y., Takagi, A., et al. 1995. Vestibular function in patients with a large vestibular aqueduct. Acta Otolaryngol Suppl, 520, 323-326.
28. O'Neill, G., Frosh, A.C. & Jayaraj, S.M. 2000. Systematic errors in bone conduction audiometry. Clin Otolaryngol, 25, 468-470.
29. Shenoi, P.M. 1972. Wildervanck's syndrome. Hereditary malformations of the ear in three generations. J Laryngol Otol, 86, 1121-1135.
30. Stinckens, C., Standaert, L., Casselman. J.W., Huygen, P.L.M., Kumar, S., et al. 2001. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol, 59, 163-172.
31. Usami, S., Abe, S., Weston, M.D., Shinkawa, H., Van Camp, G., et al. 1999. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet, 104, 188-192.
32. Van Camp, G. & Smith, R.J.H. 2002. Hereditary Hearing Loss Homepage, Available at: http://dnalab-www.uia.ac.be/dnalab/hhh/ (accessed 10 February 2003).
33. Widdershoven, J., Monnens, L., Assmann, K. & Cremers, C.W.R.J. 1983. Renal disorders in the branchio-oto-renal syndrome. Helv Paediatr Acta, 38, 513-522.
34. Xu, P.-X., Adams, J., Brown, M.C., Heany, S. & Maas, R. 1999. Eyal-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet, 23, 113-117.