High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1425-1429

  Fransen, Erik ^a   Verstreken, Margriet ^a,b   Verhagen, Wim I M ^c   Wuyts, Floris L ^b   Huygen, Patrick L M ^c   D'Haese, Patrick ^b   Robertson, Nahid G ^d   Morton, Cynthia C ^d,e   McGuirt, Wyman T ^f   Smith, Richard J H ^f   Declau, Frank ^b   Van De Heyning, Paul H ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^d HARVARD MEDICAL SCHOOL   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HEARING LOSS; HEREDITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MENIERE DISEASE; MISSENSE MUTATION; ONSET AGE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TINNITUS; VERTIGO; VESTIBULAR DISORDER;

CHROMOSOMES, HUMAN, PAIR 14; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MENIERE'S DISEASE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PREVALENCE; PROTEINS;

EID: 0032837049     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1425     Document Type: Article

References (21)

1. Van Camp, G., Willems, P.J. and Smith, R.J. (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet., 60 758-764.
2. Steel, K.P. (1998) Progress in progressive hearing loss. Science, 279, 1870-1871.
3. Manolis, E.N., Yandavi, N., Nadol, J.B., Eavey, R.D., McKenna, M., Rosenbaum, S., Khetarpal, U., Halpin, C., Merchant, S.N., Duyk, G.M., MacRae, C., Seidman, C.E. and Seidman, J.G. (1996) A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum. Mol. Genet., 5, 1047-1050.
4. Robertson, N.G., Lu, L., Heller, S., Merchant, S.N., Eavey, R.D., McKenna, M., Nadol, J.B., Miyamoto, R.T., Linthicum, F.H., Lubianca Neto, J.F., Hudspeth, A.J., Seidman, C.E., Morton, C.C. and Seidman, J.G. (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction. Nature Genet., 20, 299-303.
5. de Kok, Y., Bom, S.J.H., Brunt, T.M., Kemperman, M.H., van Beusekom, E., van der Velde-Visser, S.D., Robertson, N.G., Morton, C.C., Huygen, P.L.M., Verhagen, W.I.M., Brunner, H., Cremers, C.W.R.J. and Cremers, F.P. (1999) A Pro51Ser mutation in the COCH gene is associated with late-onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum. Mol. Genet, 8, 361-366.
6. Khetarpal, U., Schuknecht, H.F., Gacek, R.R. and Holmes, L.B. (1991) Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds. Arch. Otolaryngol. Head Neck Surg., 117, 1032-1042.
7. Khetarpal, U. (1993) Autosomal dominant sensorineural hearing loss. Further temporal bone findings. Arch. Otolaryngol. Head Neck Surg., 119, 106-108.
8. Committee on Hearing and Equilibrium (1995) Guidelines for the diagnosis and evaluation of therapy in Meniere's disease. Otolaryngol. Head Neck Surg., 113, 181-185.
9. Oliveira, C.A. and Braga, A.M. (1992) Meniere's syndrome inherited as an autosomal dominant trait. Ann. Otol. Rhinol. Laryngol., 101, 590-594.
10. Koyama, S., Mitsuishi, Y., Bibee, K., Watanabe, I. and Terasaki, P.I. (1993) HLA associations with Meniere's disease. Acta Otolaryngol. (Stockh.), 113, 575-578.
11. Dohlman, G., (1980) Mechanism of the Menière attack. ORL J Otorhinolaryngol. Relat. Spec., 42, 10-19.
12. Van de Heyning, P.H., Wuyts, F.L., Claes, J., Koekelkoren, E., Van Laer, C. and Valcke, H. (1997) Definition, classification and reporting of Meniere's disease and its symptoms. Acta Otolaryngol. (Stockh.), 526 (suppl.), 5-9.
13. Kikuchi, T., Kimura, R.S., Paul, D.L. and Adams, J.C. (1995) Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat. Embryol., 191, 101-118.
14. Spicer, S.S. and Schulte, B.A. (1996) The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency. Hearing Res., 100, 80-100.
15. + recycling pathway from inner hair cells. Hearing Res., 118, 1-12.
16. Xia, J.H., Liu, C.Y., Tang, B.S., Pan, Q., Huang, L., Dai, H.P., Zhang, B.R., Xie, W., Hu, D.X., Zheng, D., Shi, X.L., Wang, D.A., Xia, K., Yu, K.P., Liao, X.D., Feng, Y., Yang, Y.F., Xiao, J.Y., Xie, D.H. and Huang, J.Z. (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genet., 20, 370-373.
17. Lynch, E.D., Lee, M.K., Morrow, J.E., Welcsh, P.L., Leon, P.E. and King, M.C. (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science, 278, 1315-1318.
18. Verhagen, W.I.M., Huygen, P.L.M. and Joosten, E.M.G. (1988) Familial progressive vestibulocochlear dysfunction. Arch. Neurol., 45, 766-769.
19. Verhagen, W.I.M. and Huygen, P.L.M. (1991) Familial progressive vestibulocochlear dysfunction [letter]. Arch. Neurol., 48, 262.
20. Verhagen, W.I.M., Huygen, P.L.M., Theunissen, E.J. and Joosten, E.M.G. (1989) Hereditary vestibulo-cochlear dysfunction and vascular disorders. J. Neurol. Sci., 92, 55-63.
21. Lathrop, G.M. and Lalouel, J.M. (1984) Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet., 36, 460-465.