Identification of mutation gene gjb2 in patients with hearing impairment

Ewa Nowakowska-Szyrwińska¹, Łucja Sobieszczańska-Radoszewska¹, Teresa Bralczyk¹, Wojciech Wiszniewski², Ewa Obersztyn², Tadeusz Mazurczak²Jerzy Bal²

Summary
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.

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