Connexin 26/35delG mutáció gyakorisága és jellemzó fenotípusa Magyarország északkeleti régiójában vizsgált hallássérült és kontroll esetekben.

Translated title of the contribution: Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary

Tímea Tóth, Susan Kupka, Nicolaus Blin, Markus Pfister, István Sziklai

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

INTRODUCTION: Hereditary hearing impairment is a heterogeneous disorder showing different pattern of inheritance and involving a multitude of different genes. Mutations in the GJB2 gene, especially the 35delG mutation, have been established as a major cause of inherited and sporadic non-syndromic deafness in different populations. Mutations in GJB2 gene, encoding gap junction protein (Connexin 26), may be responsible for up to 50% of cases of autosomal recessive non-syndromic hearing impairment and in 15-30% of sporadic cases. STUDY DESIGN: The authors analyzed 15 north east Hungarian families and 30 sporadic cases with nonsyndromic hearing impairment for the 35delG mutation. METHODS: DNA were tested for the common 35delG mutation by a polymerase chain reaction based restriction enzyme assay (BsiYl). RESULTS: Fifty two patients showing a homozygous 35delG mutation were audiological examined. Ordinarily these patients showed a prelingual, sensorineural, bilateral, symmetric hearing loss without progression. The audiograms were characterized by sloping or flat patterns. The carrier frequency of the 35delG mutation among control group was 5.1%. CONCLUSION: The phenotypic manifestation varied in 30% of all analyzed patients, making genetic counseling extremely difficult. Due to this knowledge mutation analysis of GJB2 cannot distinctly predict the degree of hearing impairment.

Original languageHungarian
Pages (from-to)2285-2289
Number of pages5
JournalOrvosi hetilap
Volume143
Issue number40
Publication statusPublished - Oct 6 2002

    Fingerprint

ASJC Scopus subject areas

  • Medicine(all)

Cite this