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[Nonsyndromic sensorineural deafness--analysis of etiology in relatives]
Ewa Nowakowska-Szyrwinska1, Lucja Sobieszczanska-Radoszewska
1Zaklad Audiologii, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. audiologia@imid.med.pl
Abstract:
We present the results of complex clinical examination of children affected with sensorineural hearing loss. The siblings (minimum two) were born from unaffected parents and came from twelve families. Molecular studies confirmed genetic background of hearing loss in 6 families and enabled identification of GJB2 mutations in investigated probants.