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date: 27 June 2019

Abstract and Keywords

Genetic factors are believed to account for more than half of all cases of congenital or early-onset moderate to profound deafness. The identification of several dozen genes for deafness, one of which accounts for a high proportion of all childhood deafness, has enabled the identification of the exact cause of deafness in many children through genetic testing. Parents, family members, deaf and hard-of-hearing adults, as well as health care and educational professionals often are unaware of the exact process and goals of genetic evaluation and may have questions about the usefulness of genetic testing. Sensitive and appropriate genetic evaluation and testing, coupled with appropriate interpretation and information through genetic counseling, can be invaluable to many families. Health professionals and those who work with deaf children in educational and service settings play an important role in helping parents and family members understand the value of a genetic evaluation and making referrals to genetics professionals.

Keywords: genetics, autosomal dominant, autosomal recessive, connexin 26, deaf, hard-of-hearing, hearing loss

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