GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

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dc.contributor.authorDia, Yacouba
dc.contributor.authorAdadey, Samuel Mawuli
dc.contributor.authorDiop, Jean Pascal Demba
dc.contributor.authorAboagye, Elvis Twumasi
dc.contributor.authorBa, Seydi Abdoul
dc.contributor.authorDe Kock, Carmen
dc.contributor.authorLy, Cheikh Ahmed Tidjane
dc.contributor.authorOluwale, Oluwafemi Gabriel
dc.contributor.authorSène, Andrea Regina Gnilane
dc.contributor.authorSarr, Pierre Diaga
dc.contributor.authorDiallo, Bay Karim
dc.contributor.authorDiallo, Rokhaya Ndiaye
dc.contributor.authorWonkam, Ambroise
dc.date.accessioned2022-07-21T09:32:49Z
dc.date.available2022-07-21T09:32:49Z
dc.date.issued2022-05-23
dc.date.updated2022-05-27T13:36:40Z
dc.description.abstractThe 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.en_US
dc.identifierdoi: 10.3390/biology11050795
dc.identifier.apacitationDia, Y., Adadey, S. M., Diop, J. P. D., Aboagye, E. T., Ba, S. A., De Kock, C., ... Wonkam, A. (2022). GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal. <i>Biology</i>, 11(5), 795. http://hdl.handle.net/11427/36650en_ZA
dc.identifier.chicagocitationDia, Yacouba, Samuel Mawuli Adadey, Jean Pascal Demba Diop, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Carmen De Kock, Cheikh Ahmed Tidjane Ly, et al "GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal." <i>Biology</i> 11, 5. (2022): 795. http://hdl.handle.net/11427/36650en_ZA
dc.identifier.citationDia, Y., Adadey, S.M., Diop, J.P.D., Aboagye, E.T., Ba, S.A., De Kock, C., Ly, C.A.T. & Oluwale, O.G. et al. 2022. GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal. <i>Biology.</i> 11(5):795. http://hdl.handle.net/11427/36650en_ZA
dc.identifier.ris TY - Journal Article AU - Dia, Yacouba AU - Adadey, Samuel Mawuli AU - Diop, Jean Pascal Demba AU - Aboagye, Elvis Twumasi AU - Ba, Seydi Abdoul AU - De Kock, Carmen AU - Ly, Cheikh Ahmed Tidjane AU - Oluwale, Oluwafemi Gabriel AU - Sène, Andrea Regina Gnilane AU - Sarr, Pierre Diaga AU - Diallo, Bay Karim AU - Diallo, Rokhaya Ndiaye AU - Wonkam, Ambroise AB - 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. DA - 2022-05-23 DB - OpenUCT DP - University of Cape Town IS - 5 J1 - Biology LK - https://open.uct.ac.za PY - 2022 T1 - GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal TI - GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal UR - http://hdl.handle.net/11427/36650 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/36650
dc.identifier.vancouvercitationDia Y, Adadey SM, Diop JPD, Aboagye ET, Ba SA, De Kock C, et al. GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal. Biology. 2022;11(5):795. http://hdl.handle.net/11427/36650.en_ZA
dc.language.isoenen_US
dc.publisher.departmentDivision of Human Geneticsen_US
dc.publisher.facultyFaculty of Health Sciencesen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.sourceBiologyen_US
dc.source.journalissue5en_US
dc.source.journalvolume11en_US
dc.source.pagination795en_US
dc.source.urihttps://www.mdpi.com/journal/biology
dc.titleGJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegalen_US
dc.typeJournal Articleen_US
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