Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples from 184 family members underwent whole-exome sequencing (WES). Variants were found in 14 known non-syndromic HI (NSHI) genes [26/51 (51.

Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghana.

Genetic factors significantly contribute to the burden of hearing impairment (HI) in Ghana as there is a high carrier frequency (1.5%) of the connexin 26 gene founder variant GJB2-R143W in the healthy Ghanaian population. GJB2-R143W mutation accounts for nearly 26% of causes in families segregating congenital non-syndromic HI.

and variants in non-syndromic hearing impairment in Ghana.

Although connexins are known to be the major genetic factors associated with HI, only a few studies have investigated and variants among hearing-impaired patients. This study is the first to report and variants from an African HI cohort. We have demonstrated that and genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana.

Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a Founder Mutation for Hearing Impairment in Ghana.

In Ghana, gap-junction protein β 2 () variants account for about 25.9% of familial hearing impairment (HI) cases. The -p.