Non-syndromic autosomal dominant sensorineural hearing loss: A new field of research

Clinical Otolaryngology and Allied Sciences

Volumn 23, Issue 1, 1998, Pages 9-17

  Kunst, H ^a   Marres, H ^a   Vancamp, G ^b   Cremers, C ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AUDIOGRAPHY; AUTOSOMAL DOMINANT DISORDER; CHILD; DISEASE COURSE; GENE LOCATION; GENE LOCUS; HUMAN; LOW FREQUENCY NOISE; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD;

EID: 0031926717     PISSN: 03077772     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2273.1998.00093.x     Document Type: Review

References (76)

1. PARVING A. (1993) Congenital hearing disability epidemiology and identification: a comparison between two health authority districts. Int. J. Ped. Otorhinolaryngology. 27, 29-46
2. MORTON N.E. (1991) Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 630, 16-31
3. WILDE W.R. (1853) Practical Observations On Aural Surgery and the Nature and Treatment of Diseases of the Ear. Blanchard and Lea, Philadelphia
4. UCHERMANN V.K. (1869) De Dorstumme i Narge. Cammermeyer, Christiana (Norwegian)
5. HARTMANN A. (1880) Taubstummheit und Taubstummenbildung, nach den vorhandenen Quellen, sowie nach eigenen Beobachtungen und Erfahrungen. Ferdinand Enke, Stuttgart
6. POLITZER A. (1882) Lehrbuch der Ohrenheilkunde für praktische Ärzte und Studierende. II Band. Ferdinand Enke, Stuttgart
7. MARAZITA M.L., PLOUGHMAN L.M., RAWLINGS B. et al. (1993) Genetic epidemiological studies of early-onset deafness in the US school-age population. Am. J. Med. Genet. 46, 486-491
8. GORLIN R.J., TORIELLO H.V. & COHEN M.M. (1995) Hereditary Hearing Loss and Its Syndromes. Oxford Monographs on Medical Genetics no. 28. Oxford University Press, Oxford
9. THE VANDERBILT UNIVERSITY HEREDITARY DEAFNESS STUDY GROUP. (1968) Dominantly inherited low-frequency hearing loss. Arch. Otolaryngol. 88, 242-250
10. KONIGSMARK B.W., MENGEL M. & BERLIN C.I. (1971) Familial low-frequency hearing loss. Laryngoscope 81, 759-771
11. WILLIAMS F., LYONS J.P., STEIN S.P. & ROBLEE L. (1954) Progressive hereditary nerve deafness. Med. Ann. D.C. 23, 681-683
12. CAWTHORNE T.E. & HINCHCLIFFE R. (1957) Familial perceptive deafness. Pract. Otorhinolaryngol. 19, 68-83
13. MARTENSSON B. (1960) Dominant hereditary nerve deafness. Acta Otolaryngol. (Stockh.) 52, 270-274
14. DOLOWITZ D.A. & STEPHENS F.E. (1961) Hereditary nerve deafness. Ann. Otol. Rhinol. Laryngol. 70, 851-859
15. HUIZING E.H., VAN BOLHUIS A.H. & ODENTHAL D.W. (1966) Studies on progressive hereditary perceptive deafness in a family of 335 members. I. Genetical and general audiological results. Acta Otolaryngol. 61, 35-41
16. GUSSEN R. (1969) Delayed hereditary deafness with cochlear aqueduct obstruction. Arch. Otolaryngol. 90, 429-436
17. KONIGSMARK B.W. & GORLIN R.J. (1976) Genetic and Metabolic Deafnes. Saunders Co., Philadelphia
18. CREMERS C. (1995) Genetic hearing loss. Past and future. Clin. Otolaryngol. 20, 493-494
19. STINCKENS C., ENSINK, R., FEENSTRA L., FRYNS J.P. & CREMERS C. (1997) Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes. Int. J. Ped. ORL 38, 237-245
20. MARRES H., VAN EWIJK M., HUYGEN P. et al. (1997) Inherited non-syndromic hearing loss. Arch. Otol. Laryngol. 23, 97-99
21. KUNST H., MARRES H., HUYGEN P. et al. (1997) Non-syndromic autosomal dominant progressive sensorineural hearing loss. Audiological analysis on a pedigree linked to DFNA2. Laryngoscope (in press)
22. EUROPEAN WORK GROUP ON GENETICS OF HEARING IMPAIRMENT (1996) Info letter, 2 November
23. IINUMA T., SHITARA T., HOSHINO T. & KIRIKAE I. (1967) Sensorineural hearing loss for low tones. Arch. Otolaryngol. 86, 110-116
24. NANCE W. & SWEENEY A. (1975) Genetic factors in deafness of early life. Otolaryngol. Clin. N. Am. 8, 19-48
25. PARVING, A., JOHNSEN N.J. & HOLM-JENSEN S. (1978) Dominantly inherited low-frequency hearing loss. Audiology 17, 165-172
26. LEÓN P.E., BONILLA J.A., SÁNCHEZ J.R. et al. (1981) Low frequency hereditary deafness in man with childhood onset. Am. J. Hum. Genet. 33, 209-214
27. PARVING A. (1984) Inherited low-frequency hearing loss. Scand. Audiol. 13, 47-56
28. LEÓN P.E., RAVENTOS H., LYNCH E., MORROW J. & KING M.-C. (1992) The gene for an inherited form of deafness maps to chromosome 5q31. Proc. Natl. Acad. Sci. USA 89, 5181-5184
29. LESPERANCE M.M., HALL J.W., BESS F.H. et al. (1995) A gene for autosomal dominant non-syndromic hereditary hearing impairment maps to 4p16.3. Hum. Mol. Genet. 4, 1967-1972
30. WILLIAMS F. & ROBLEE L.A. (1962) Hereditary nerve deafness. Arch. Otolaryngol. 75, 69-77
31. PAPARELLA M.M., SUGIURA S. & HOSHINO T. (1969) Familial progressive sensorineural deafness. Arch. Otolaryngol. 90, 44-51
32. KONIGSMARK B.W., SALMAN S., HASKINS H. & MENGEL M. (1970) Dominant mid-frequency hearing loss. Ann. Otol. Rhinol. Larynngol. 79, 42-54
33. VAN RIJN P.M. (1989) Causes of Early Childhood Deafness. PhD Thesis, Nijmegen, The Netherlands
34. INTERNATIONAL ORGANIZATIONS FOR STANDARDIZATIONS, (1984) ISO7029. Acoustics of Age and Sex for Otologically Normal Persons. International Organization for Standardization, Geneva
35. COUCKE P., VAN CAMP G., DJOYODIHARJO B. et al. (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome I in two families. N. Engl. J. Med. 331, 425-431
36. VAN CAMP G., COUCKE P.J., KUNST H. et al. (1997) Linkage analysis of progressive hearing loss in live extended families maps the DFNA2 gene to a 1.25 Mb region on chromosome 1p. Genomics 41, 70-74
37. DJELANTIK B. (1996) Progressive Autosomal Dominant Hearing Loss. PhD Thesis, Antwerp, Belgium
38. CHAIB H., LINA-GRANADE G., GUILFORD P. et al. (1994) A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum. Mol. Genet. 3, 2219-2222
39. KELSELL D.P., DUNLOP J., STEVENS H.P. et al. (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80 (Letter)
40. CHEN A.H., NI L., FUKISHIMA K. et al. (1995) Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum. Mol. Genet. 4, 1073-1076
41. VAN CAMP G., COUCKE, P., DALEMANS W. et al. (1995) Localizations of a locus for non-syndromic hearing loss (DFNA5) to chromosome 7p. Hum. Mol. Genet. 4, 2159-2163
42. HUIZING E.H., VAN BOLHUIS A.H. & ODENTHAL D.W. (1966) Studies on progressive hereditary perceptive deafness in a family of 335 members. II: Characteristic pattern of hearing deterioration. Acta Otolaryngol. 61, 161-167
43. HUIZING E.H., VAN BOLHUIS A.H. & ODENTHAL D.W. (1972) Results of further studies on progressive hereditary sensorineural hearing loss. Audiology 12, 261-263
44. VAN DEN WIJNGAART W.S.I.M. (1982) Dominant erfelijke progressieve binnenoorslechthorendheid. PhD Thesis, Rotterdam, The Netherlands
45. HUIZING E.H., VAN DEN WIJNGAART W.S.I.M. & VERSCHUURE J. (1983) A follow-up study of a family with dominant progressive inner ear deafness. Acta Otolaryngol. 95, 620-626
46. VAN DEN WIJNGAART W.S.I.M., HUIZING E.H., NEIRMEIJER M.F. et al. (1985) Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. I: Analysis of hearing deterioration. Audiology 24, 233-240
47. VAN DEN WIJNGAART W.S.I.M., HUIZING E.H. NIERMEIJER M.F. et al. (1985) Follow-up study in a family with dominant progressive hereditary sensorineural hearing impairment. II: Clinical aspects. Audiology 24, 336-342
48. HALL J.W. III, BESS F., STROUSE A. & CHASE P. (1994) Dominant inherited low frequency hearing loss: documentation in five generations. In Twenty-second International Congress of Audiology Bonk of Abstracts p. 102, Halifax
49. FAGERHEIM T., NILSSEN O., RAEYMAEKERS P. et al. (1996) Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family. Hum. Mol. Genet. 5, 1187-1191
50. KIRSCHHOFER K., HOOVER D.M., KENYON J.B. et al. (1995) Localisation of a gene responsible for autosomal dominant non-syndromic sensorineural hearing loss to chromosome 15. The Molecular Biology of Deafness and Hearing Meeting, Bethesda: Book of Abstracts, p. 100
51. MANOLIS E.N., NADOL J.B., EAVCY R.D. et al. (1996) A gene for non-syndromic autosomal dominant progressive postlingual sensorineural deafness maps to chromosome 14q12-13. Hum. Mol. Genet. 5, 1047-1050
52. O'NEILL M.E., MARIETTA J., NISHIMURA D. et al. (1996) A gene for autosomal dominant late-onset progressive non-syndromic hearing loss maps to chromosome 6-DFNA10. Hum. Mol. Genet. 5, 853-856
53. TAMAGAWA Y., KITAMURA K., ISHIDA T. et al. (1996) A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum. Mol. Genet. 5, 849-852
54. VERHOEVEN K., VAN CAMP G., GOVAERTS P., BALEMANS W., SCHATTEMAN I., VON LAER L. et al. (1997) A gene for autosomal dominant non-syndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am. J. Hum. Genet. 60, 1168-1173
55. GUILFORD P., ARAB S.B., BLANCHARD S. et al. (1994a) A non-syndromic form of neurosensory, recessive deafness maps to the pericentrometric region of chromosome 13q. Nature Genet. 6, 24-28
56. GUILFORD P., AYADI H., BLANCHARD S. et al. (1994b) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum. Mol. Genet. 3, 989-993
57. FRIEDMAN T.N., LIANG, Y., WEBER J.L. et al. (1995) A gene for congenital recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet. 9, 86-91
58. BALDWIN C.T., FARRER L.A., WEISS S. et al. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet. 4, 1637-1642
59. FUKUSHIMA K., ARABANDI R., SRISAILAPATHY C.R.S. et al. (1995a) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum. Mol. Genet. 4, 1643-1648
60. FUKUSHIMA K., ARABANDI, R., SRISAILAPATHY C.R.S. et al. (1995b) An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genet. Res. 5, 305-308
61. JAIN P.K., FUKUSHIMA K., DESMUKH D. et al. (1995) A human recessive neurosensory non-syndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum. Mol. Genet. 4, 2391-2394
62. VESKE A., OEHLMANN R., YOUNUS F. et al (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 5, 165-168
63. 22-23. Hum. Mol. Genet. 5, 155-158
64. BONNÉ-TAMIR B., DE STEFANO A.L., BRIGGS C.E. et al. (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am. J. Hum. Genet. 58, 1254-1259
65. SCOTT D.A., CARMI R., ELBEDOUR K. et al. (1996) An autosomal recessive non-syndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. 59, 385-391
66. CHAIB H., PLACE C., SALEM N. et al. (1996b) Mapping of DFNB12, a gene for non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum. Mol Genet. 5, 1061-1064
67. CAMPBELL D.A., MCHALE D.P., BROWN K.A. et al. (1997) A new locus for non-syndromal autosomal recessive sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J. Med. Genet. (in press)
68. TRANEBJAERG L., SCHWARTZ C., ERIKSEN H. et al. (1996) A new X-linked recess ve deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J. Med. Genet. 32, 257-263
69. TYSON J., BELIMAN S., NEWTON V. et al. (1996) Mapping of DFN2 to Xq22. Hum. Mol. Genet. 5, 2055-2060
70. DE KOK Y.J., VAN DER MAAREL S.M., BITNER-GLINDZICZ M. et al. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267, 685-688
71. LALWANI A.K., BRISTER J.R., FEX J. et al. (1994) A new non-syndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am. J. Hum. Genet. 55, 685-694
72. DEL CASTILLO I., VILLAMAR M., SARDUY M. et al. (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum. Mol. Genet. 5, 1383-1387
73. PREZANT T.R., AGAPIAN J.V., BOHLMAN M.C. et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet. 4, 289-294
74. REID F.M., VERNHAM G.A. & JACOBS H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutation 3, 243-247
75. VAN CAMP G., WILLEMS P.J. & SMITH R.J.H. (1997) Non-syndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 60, 758-764
76. VAN CAMP G. & SMITH R.J.H. Hereditary Hearing Loss Homepage. World Wide Weh URL: http: dnalab-www.uiu.ac.be dnalab.hhh