Genetics of hearing loss in Egypt

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Abstract

Hearing loss is an economically and socially important cause of human morbidity. Recognition of the etiology of hearing impairment is important in terms of prognosis and counseling. Genetic hearing loss is considered the most common cause of pediatric hearing loss, particularly in developing countries. Recent advances in molecular genetics in the last two decades have shown that mutations in the gap junction β2 subunit (GJB2) gene are responsible for approximately half of the cases of genetic hearing impairment. This article highlights and reviews the characteristics of genetic hearing loss in Egypt, focusing on the studies related to GJB2 gene mutations in different geographical locations in Egypt. The studies carried out on GJB2 in different geographical locations in Egypt are analyzed and compared with each other in terms of the frequency and the profile of hearing loss. These studies showed that hereditary hearing loss is a major cause of hearing loss in the Egyptian population as it constitutes nearly 50% of the causes of hearing loss. GJB2 mutations were found in ∼15% of deaf patients in the geographical locations studied in Egypt. The most frequent pathogenic mutation was 35delG mutations. The characteristic profile is early-onset bilateral sensorineural hearing loss. GJB2 mutations are not the leading cause of deafness in Egyptian population. Exome sequencing is recommended to pinpoint the most common genes responsible for deafness in different geographic locations of Egypt.

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