Frequencey of mutations in the GJB2 and 12S rRNA genes in egyptian patients with hereditary hearing loss

الملخص EN

The aim of this study was to determine the prevalence of GJB2 and 12S rRNA mutations in Egyptian families with hereditary hearing loss.

Twenty three families showing hereditary, hearing loss analyzed.

Seventeen of these families showed non-syndromic sensor neural hearing loss while the rest 4 families were showing syndromic form of hearing loss.

All subjects were examined by clinical evaluation and genetic analysis of their samples, including PCR, restriction assays, sequencing and SSCP.

The 35delG was found in 23.53% (4/17) of the families or in 24 of 142 (16.9%) investigated alleles.

Four patients were heterozygous carriers and 10 patients were homozygous for the 35delG mutations.

No other mutations of GJB2 have been reported.

No A1555G mutation have been detected in the study group.

These results emphasize the importance of genetic diagnosis and genetic counseling of deafpatients in Egypt