High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria

Ear and Hearing

Volumn 28, Issue 3, 2007, Pages 298-301

  Ramsebner, Reinhard ^a   Volker, Romana ^a   Lucas, Trevor ^b   Hamader, Gertrude ^b   Weipoltshammer, Klara ^b   Baumgartner, Wolf Dieter ^a   Wachtler, Franz J ^b   Kirschhofer, Karin ^c   Frei, Klemens ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Center of Anatomy and Cell Biology   (Austria)

^c Department of Otorhinolaryngology   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION BETA 2 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUSTRIA; CHILD; CLINICAL ARTICLE; EVOKED BRAIN STEM RESPONSE; EVOKED RESPONSE AUDIOMETRY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; OTOACOUSTIC EMISSION; SCREENING TEST; WILD TYPE;

AUSTRIA; CONNEXINS; FEMALE; HEARING DISORDERS; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MASS SCREENING; NEONATAL SCREENING; POINT MUTATION;

EID: 34248232505     PISSN: 01960202     EISSN: None     Source Type: Journal    
DOI: 10.1097/AUD.0b013e318047932d     Document Type: Article

References (24)

1. Bathelier, C., Francois, M., Lucotte, G. (2004). Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness. Genetic Counseling, 15, 61-66.
2. Cohen, M., Gorlin, R. (1995). Epidemiology, etiology and genetic patterns. In R. Gorlin, H. Toriello & M. Cohen Jr (Eds). Epidemiology, etiology and genetic patterns (pp. 9-21). Oxford: Oxford University Press.
3. Estivill, X., Fortina, P., Surrey, S., Rabionet, R., Melchionda, S., D'Agruma, L., et al. (1998). Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 351, 394-398.
4. Frei, K., Ramsebner, R., Hamader, G., Lucas, T., Schoefer, C., Baumgartner, W.-D., et al. (2004a). Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hearing Research, 194, 81-86.
5. Frei, K., Ramsebner, R., Lucas, T., Baumgartner, W. D., Schoefer, C., Wachtler, F. J., et al. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. Hearing Research, 2004b;196, 115-118.
6. Frei, K., Ramsebner, R., Lucas, T., Hamader, G., Szuhai, K., Weipoltshammer, K, et al. GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling. Laryngoscope, 2005;115, 461-465.
7. Frei, K., Szuhai, K., Lucas, T., Weipoltshammer, K., Schofer, C., Ramsebner, R, et al. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. European Journal of Human Genetics, 2002;10, 427-432.
8. Kelley, P. M., Harris, D. J., Comer, B. C., Askew, J. W., Fowler, T., Smith, S. D., et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. American Journal of Human Genetics, 1998;62, 792-799.
9. Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 1997;387, 80-83.
10. Kikuchi, T., Adams, J. C., Miyabe, Y., So, E., Kobayashi, T. (2000). Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Medical Electron Microscopy, 33, 51-56.
11. Liu, X. Z., Xia, X. J., Ke, X. M., Ouyang, X. M., Du, L. L., Liu, Y. H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Humans Genetics, 2002;111, 394-397.
12. Loffler, J., Nekahm, D., Hirst-Stadlmann, A., Gunther, B., Menzel, H. J., Utermann, G, et al. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. European Journal of Human Genetics, 2001;9, 226-230.
13. Lopponen, T., Vaisanen, M. L., Luotonen, M., Allinen, M., Uusimaa, J., Lindholm, P, et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope, 2003;113, 1758-1763.
14. Moeller, M. P. (2000). Early intervention and language development in children who are deaf and hard of hearing. Pediatrics, 106, E43.
15. Murgia, A., Orzan, E., Polli, R., Martella, M., Vinanzi, C., Leonardi, E, et al. Cx26 deafness: mutation analysis and clinical variability. Journal of Medical Genetics, 1999;36, 829-832.
16. Pagarkar, W., Bitner-Glindzicz, M., Knight, J., Sirimanna, T. (2006). Late postnatal onset of hearing loss due to GJB2 mutations. International Journal of Pediatric Otorhinolaryngology, 70, 1119-1124.
17. Scott, D. A., Kraft, M. L., Carmi, R., Ramesh, A., Elbedour, K., Yairi, Y, et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human Mutation, 1998;11, 387-394.
18. Shi, G. Z., Gong, L. X., Xu, X. H., Nie, W. Y., Lin, Q., Qi, Y. S. (2004). GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China. Hearing Research, 197, 19-23.
19. Snoeckx, R. L., Huygen, P. L., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J, et al. (2005). GJB2 mutations and degree of hearing loss: a multicenter study. American Journal of Human Genetics, 77, 945-957.
20. Starr, A., Picton, T. W., Sininger, Y., Hood, L. J., Berlin, C. I. (1996). Auditory neuropathy. Brain, 119, 741-753.
21. Van Camp, G., Willems, P. J., Smith, R. J. (1997). Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet, 60, 758-764.
22. Wangemann, P. (2002). K+ cycling and the endocochlear potential. Hearing Research, 165, 1-9.
23. Weichbold, V., Nekahm-Heis, D., Welzl-Mueller, K. (2006). Ten-year outcome of newborn hearing screening in Austria. International Journal of Pediatric Otorhinolaryngology, 70, 235-240.
24. Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., Govea, N., et al. (1997). Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics 6, 1605-1609.