Browsing by Author "Dia, Yacouba"

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    GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal
    (2022-05-23) Dia, Yacouba; Adadey, Samuel Mawuli; Diop, Jean Pascal Demba; Aboagye, Elvis Twumasi; Ba, Seydi Abdoul; De Kock, Carmen; Ly, Cheikh Ahmed Tidjane; Oluwale, Oluwafemi Gabriel; Sène, Andrea Regina Gnilane; Sarr, Pierre Diaga; Diallo, Bay Karim; Diallo, Rokhaya Ndiaye; Wonkam, Ambroise
    The prevalence of GJB2-related (MIM: 121011) congenital non-syndromic hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European ancestry. However, in sub-Saharan Africa, except for Ghana, previous data showed that the prevalence of GJB2-associated NSHI is close to zero. To investigate the contribution of GJB2 mutations in autosomal recessive NSHI in Senegal, we screened 129 affected and 143 unaffected individuals from 44 multiplex families, 9 sporadic cases, and 148 hearing controls with no personal or family history of hearing impairment, by targeted gene sequencing. We identified three pathogenic GJB2 variants in 34% (n = 15/44) of multiplex families, of which 80% (n = 12/15) were consanguineous. The most common variant, GJB2: c.94C>T: p.(Arg32Cys), accounted for 27.3% (n = 12/44) of familial cases. We also identified the previously reported “Ghanaian” founder variant, GJB2: c.427C>T: p.(Arg143Trp), in four multiplex Senegalese families. Relatively high allele frequencies of c.94C>T. and c.427C>T variants were observed among the screened hearing controls: 1% (n = 2/148 ∗ 2), and 2% (n = 4/148 ∗ 2), respectively. No GJB6-D13S18 deletion was identified in any of the hearing-impaired participants. The data suggest that GJB2: c.94C>T: p.(Arg32Cys) should be routinely tested in NSHI in Senegal.