Identification of mutation gene GJB2 in patients with hearing impairment

E. Nowakowska-Szyrwinska, L. Sobieszczanska-Radoszewska, T. Bralczyk, W. Wiszniewski, E. Obersztyn, T. Mazurczak, J. Bal

Research output: Contribution to journalShort survey

Abstract

Prelingual non-syndromic deafness is the most frequent hereditary sensory defect. In more than 80% of cases, the mode of transmission is autosomal recessive. The molecular investigation was carried out in 48 patients from the audiology department in the National Research Insitute of the Mother and Child. We found mutations of the GJB2 gene in 50% of patients. GJB2 gene accounts for a large percentage of the cases of sensorineural prelingual deafness.

Original languageEnglish (US)
Pages (from-to)44-45
Number of pages2
JournalNew Medicine
Volume3
StatePublished - Dec 1 1999

Keywords

  • GJB2 gene
  • Mutations
  • Prelingual deafness

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Nowakowska-Szyrwinska, E., Sobieszczanska-Radoszewska, L., Bralczyk, T., Wiszniewski, W., Obersztyn, E., Mazurczak, T., & Bal, J. (1999). Identification of mutation gene GJB2 in patients with hearing impairment. New Medicine, 3, 44-45.