Coincidence of mutations in different connexin genes in Hungarian patients

Tímea Tóth, Susan Kupka, Birgit Haack, Ferenc Fazakas, L. Muszbek, Nikolaus Blin, Markus Pfister, I. Sziklai

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)315-321
Number of pages7
JournalInternational Journal of Molecular Medicine
Volume20
Issue number3
Publication statusPublished - Sep 2007

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Connexins
Hearing Loss
Mutation
Genes
Gap Junctions
Inner Ear
Exons
Genotype
DNA
Proteins

Keywords

  • GJB2-splice site mutation
  • GJB3
  • GJB6
  • Hearing impairment
  • Heterozygous GJB2 mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Coincidence of mutations in different connexin genes in Hungarian patients. / Tóth, Tímea; Kupka, Susan; Haack, Birgit; Fazakas, Ferenc; Muszbek, L.; Blin, Nikolaus; Pfister, Markus; Sziklai, I.

In: International Journal of Molecular Medicine, Vol. 20, No. 3, 09.2007, p. 315-321.

Research output: Contribution to journalArticle

Tóth, T, Kupka, S, Haack, B, Fazakas, F, Muszbek, L, Blin, N, Pfister, M & Sziklai, I 2007, 'Coincidence of mutations in different connexin genes in Hungarian patients', International Journal of Molecular Medicine, vol. 20, no. 3, pp. 315-321.
Tóth, Tímea ; Kupka, Susan ; Haack, Birgit ; Fazakas, Ferenc ; Muszbek, L. ; Blin, Nikolaus ; Pfister, Markus ; Sziklai, I. / Coincidence of mutations in different connexin genes in Hungarian patients. In: International Journal of Molecular Medicine. 2007 ; Vol. 20, No. 3. pp. 315-321.
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