Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria

Hearing Research

Volumn 194, Issue 1-2, 2004, Pages 81-86

  Frei, Klemens ^a,b   Ramsebner, Reinhard ^b   Hamader, Gertrude ^b   Lucas, Trevor ^b   Schoefer, Christian ^b   Baumgartner, Wolf Dieter ^a   Wachtler, Franz J ^b   Kirschhofer, Karin ^b,c  

^a UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

^c KRANKENHAUS DER BARMHERZIGEN BRÜDER   (Austria)

Author keywords

BERA, brainstem evoked response audiometry; Cx, Connexin; GJB3, gap junction protein beta 3; HL, hearing loss; NSHI, non syndromic hearing impairment; OAE, otoacoustic emissions; RFLP, restriction fragment length polymorphism; Sensorineural deafness

Indexed keywords

CONNEXIN 31; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUSTRIA; CONTROLLED STUDY; CORRELATION ANALYSIS; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AUSTRIA; CHROMOSOME DISORDERS; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 3342971366     PISSN: 03785955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.heares.2004.03.007     Document Type: Article

References (29)

1. Casano R.A., Bykhovskaya Y., Johnson D.F., Hamon M., Torricelli F., Bigozzi M., Fischel-Ghodsian N. Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am. J. Med. Genet. 79(5):1998;388-391
2. Cohen M.M., Gorlin R.J. Epidemiology, etiology and genetic patterns. Gorlin R.J., Toriello H.V., Cohen M.M. Jr. Hereditary Hearing Loss and Its Syndromes. 1995;9-21 Oxford University Press, Oxford, UK
3. Coucke P., Van Camp G., Djoyodiharjo B., Smith S.D., Frants R.R., Padberg G.W., Darby J.K., Huizing E.H., Cremers C., Kimberling W.J., Oostra B.A., Van de Heyning P.H., Willems P.J. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N. Engl. J. Med. 331(7):1994;425-431
4. Coucke P.J., Van Hauwe P., Kelley P.M., Kunst H., Schatteman I., Van Velzen D., Meyers J., Ensink R.J., Verstreken M., Declau F., Marres H., Kastury K., Bhasin S., McGuirt W.T., Smith R.J., Cremers C.W., Van de Heyning P., Willems P.J., Smith S.D., Van Camp G. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum. Mol. Genet. 8(7):1999;1321-1328
5. Del Castillo I., Villamar M., Moreno-Pelayo M.A., del Castillo F.J., Alvarez A., Telleria D., Menendez I., Moreno F. A deletion involving the Connexin 30 gene in non-syndromic hearing impairment. N. Engl. J. Med. 346(4):2002;243-249
6. Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J., Allen-Powell D.R., Osborn A.H., Dahl H.-H.M., Middleton A., Houseman M.J., Dodé C., Marlin S., Boulila-ElGaïed A., Grati M., Ayadi H., BenArab S., Bitoun P., Lina-Granade G., Godet J., Mustapha M., Loiselet J., El-Zir É., Aubois A., Joannard A., Levilliers J., Garabédian É.-N., Mueller R.F., Gardner R.J., Petit C. Prelingual deafness: high prevalence of a 30delG mutation in the Connexin 26 gene. Hum. Mol. Genet. 6:1997;2173-2177
7. Ensink R.J., Huygen P.L., Van Hauwe P., Coucke P., Cremers C.W., Van Camp G. A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region. Eur. Arch. Otorhinolaryngol. 257(2):2000;62-67
8. Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., Mansfield E., Rappaport E., Govea N., Mila M., Zelante L., Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet. 351(9100):1998;394-398
9. Fortnum H., Davis A. Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993. Br. J. Audiol. 31(6):1997;409-416
10. Frei K., Szuhai K., Lucas T., Weipoltshammer K., Schofer C., Ramsebner R., Baumgartner W.D., Raap A.K., Bittner R., Wachtler F.J., Kirschhofer K. Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur. J. Hum. Genet. 10(7):2002;427-432
11. Frei, K., et al., 2003. Manuscript submitted
12. Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen K., Metspalu A., Oitmaa E., Pisano M., Fortina P., Zelante L., Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Eur. J. Hum. Genet. 8:2000;19-23
13. Grifa A., Wagner C.A., D'Ambrosio L., Melchionda S., Bernardi F., Lopez-Bigas N., Rabionet R., Arbones M., Monica M.D., Estivill X., Zelante L., Lang F., Gasparini P. Mutations in GJB6 cause non-syndromic autosomal dominant deafness at DFNA3 locus. Nat. Genet. 23(1):1999;16-18
14. Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 387:1997;80-83
15. Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S., Leigh I.M. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur. J. Hum. Genet. 8(2):2000;141-144
16. Kubisch C., Schroeder B.C., Friedrich T., Lutjohann B., El-Amraoui A., Marlin S., Petit C., Jentsch T.J. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell. 96(3):1999;437-446
17. Liu X.Z., Xia X.J., Xu L.R., Pandya A., Liang C.Y., Blanton S.H., Brown S.D., Steel K.P., Nance W.E. Mutations in Connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum. Mol. Genet. 9(1):2000;63-67
18. Liu X.Z., Xia X.J., Adams J., Chen Z.Y., Welch K.O., Tekin M., Ouyang X.M., Kristiansen A., Pandya A., Balkany T., Arnos K.S., Nance W.E. Mutations in GJA1 (Connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum. Mol. Genet. 10(25):2001;2945-2951
19. Lopez-Bigas N., Rabionet R., Arbones M.L., Estivill X. R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Eur. J. Hum. Genet. 9(1):2001;70
20. Lopez-Bigas N., Rabionet R., Martinez E., Banchs I., Volpini V., Vance J.M., Arbones M.L., Estivill X. Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the Connexin 31 (GJB3) gene. Hum. Mutat. 15(5):2000;481-482
21. Lopez-Bigas N., Olive M., Rabionet R., Ben-David O., Martinez-Matos J.A., Bravo O., Banchs I., Volpini V., Gasparini P., Avraham K.B., Ferrer I., Arbones M.L., Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum. Mol. Genet. 10(9):2001;947-952
22. Mhatre A.N., Weld E., Lalwani A.K. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin. Genet. 63(2):2003;154-159
23. Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 630:1991;16-31
24. Rouan F., Lo C.W., Fertala A., Wahl M., Jost M., Rodeck U., Uitto J., Gichard G. Different effects of two sequence variants of GJB3 (G12D and R32W) on the function of Connexin 31 in vitro. Exp. Dermatol. 12(2):2003;191-197
25. Stern R.E., Lalwani A.K. Audiologic evidence for further genetic heterogeneity at DFNA2. Acta Otolaryngol. 122(7):2002;730-735
26. Talebizadeh Z., Kelley P.M., Askew J.W., Beisel K.W., Smith S.D. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum. Mutat. 14(6):1999;493-501
27. Van Hauwe P., Coucke P.J., Declau F., Kunst H., Ensink R.J., Marres H.A., Cremers C.W., Djelantik B., Smith S.D., Kelley P., Van de Heyning P.H., Van Camp G. Deafness linked to DFNA2: one locus but how many genes? Nat. Genet. 21(3):1999;263
28. + channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. Am. J. Med. Genet. 93(3):2000;184-187
29. 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., Huang J.Z. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet. 20(4):1998;370-373