![]() | Only 14 pages are availabe for public view |
Abstract Introduction: Hearing loss is the most common sensory impairment in newborns, found in 1-3 per 1000 births. Hearing loss may be classified based on presence or absence of associated medical conditions (syndromic vs. nonsyndromic) and mode of inheritance (dominant, recessive, x-linked, and mitochondrial). Aims: Assessment the type and the site of gene mutation in patients presented with sensorineural hearing loss who are candidate for cochlear implants. Determine the site of gene mutations. Correlate type and site of mutation with clinical severity and occurrence of complications in cases with sensorineural hearing loss (genotype phenotype correlation). Methodology: This study is a database to provide actual data regarding screening of 35delG among patients presented with sensorineural hearing loss (SNHL) to Cochlear implant unit, the Otorhinolaryngology Department, Ain Shams University Hospitals. It was conducted during the period from May 2014 to September 2016. Results: A total of 100 children were included in the study. The results of the study were presented in the form of descriptive and analytical data. The study was carried out on 100 patients, representing 98 families with nonsyndromic bilateral sensorineural hearing loss (SNHL) of variable onset and course. Conclusions: The 35delG mutation of the GJB2 gene is an important contributor to ARNSHL in children attending cochlear implant clinic Ain Shams University. 35delG mutation of GJB2 is a good indicator for successful cochlear implants surgery and good prognostic factor for outcome. Recommendations: Raise public awareness of the consequences of genetic hearing loss because of high rate of consanguineous marriages in the Egyptian population. |