Coincidence of mutations in different connexin genes in Hungarian patients

  • Authors:
    • Tímea Tóth
    • Susan Kupka
    • Birgit Haack
    • Ferenc Fazakas
    • Laszló Muszbek
    • Nikolaus Blin
    • Markus Pfister
    • István Sziklai
  • View Affiliations

  • Published online on: September 1, 2007     https://doi.org/10.3892/ijmm.20.3.315
  • Pages: 315-321
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Abstract

Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. Therefore, we screened 47 Hungarian GJB2- heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites. Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. One out of these 11 patients showed homozygous -3170G>A genotype in combination with p.R127H. Next to the GJB2 mutations we noted 2 cases of deletion in GJB6 [Δ(GJB6-D13S1830)] and 3 (2 new and 1 described) base substitutions in GJB3 [c.357C>T, c.798C>T and c.94C>T (p.R32W)] which are unlikely disease-causing. Our results suggest the importance of routine screening for the rather frequent -3170G>A mutation (in addition to c.35delG) in patients with hearing impairment.

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September 2007
Volume 20 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Tóth T, Kupka S, Haack B, Fazakas F, Muszbek L, Blin N, Pfister M and Sziklai I: Coincidence of mutations in different connexin genes in Hungarian patients. Int J Mol Med 20: 315-321, 2007.
APA
Tóth, T., Kupka, S., Haack, B., Fazakas, F., Muszbek, L., Blin, N. ... Sziklai, I. (2007). Coincidence of mutations in different connexin genes in Hungarian patients. International Journal of Molecular Medicine, 20, 315-321. https://doi.org/10.3892/ijmm.20.3.315
MLA
Tóth, T., Kupka, S., Haack, B., Fazakas, F., Muszbek, L., Blin, N., Pfister, M., Sziklai, I."Coincidence of mutations in different connexin genes in Hungarian patients". International Journal of Molecular Medicine 20.3 (2007): 315-321.
Chicago
Tóth, T., Kupka, S., Haack, B., Fazakas, F., Muszbek, L., Blin, N., Pfister, M., Sziklai, I."Coincidence of mutations in different connexin genes in Hungarian patients". International Journal of Molecular Medicine 20, no. 3 (2007): 315-321. https://doi.org/10.3892/ijmm.20.3.315