Article
Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana.
Genes - 27 Jan 2020
Adadey Samuel M, Tingang Wonkam Edmond, Twumasi Aboagye Elvis, Quansah Darius, Asante-Poku Adwoa, Quaye Osbourne, Amedofu Geoffrey K, Awandare Gordon A, Wonkam Ambroise
Abstract excerpt
In Ghana, gap-junction protein β 2 (GJB2) variants account for about 25.9% of familial hearing impairment (HI) cases. The GJB2-p.Arg143Trp (NM_004004.6:c.427C>T/OMIM: 121011.0009/rs80338948) variant remains the most frequent variant associated with congenital HI in Ghana, but has not yet been investigated in clinical practice. We therefore sought to design a rapid and cost-effective test to detect this variant....
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