GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

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dc.contributor.authorAdadey, S.M.
dc.contributor.authorWonkam, E.T.
dc.contributor.authorChimusa, E.
dc.contributor.authorNoubiap, J.J.
dc.contributor.authorFokouo, J.V.F.
dc.contributor.authorWonkam, A.
dc.date.accessioned2019-11-26T11:49:59Z
dc.date.available2019-11-26T11:49:59Z
dc.date.issued2019-10-25
dc.descriptionResearch Articleen_US
dc.description.abstractThis study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with familial non-syndromic childhood hearing impairment (HI) in Cameroon. We selected only families segregating HI, with at least two a ected individuals and with strong evidence of non-environmental causes. DNA was extracted from peripheral blood, and the entire coding region of GJB2 was interrogated using Sanger sequencing. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of the GJB6-D3S1830 deletion. A total of 93 patients, belonging to 41 families, were included in the analysis. Hearing impairment was sensorineural in 51 out of 54 (94.4%) patients. Pedigree analysis suggested autosomal recessive inheritance in 85.4% (35/41) of families. Hearing impairment was inherited in an autosomal dominant and mitochondrial mode in 12.2% (5/41) and 2.4% (1/41) of families, respectively. Most HI participants were non-syndromic (92.5%; 86/93). Four patients from two families presented with type 2 Waardenburg syndrome, and three cases of type 2 Usher syndrome were identified in one family. No GJB2 mutations were found in any of the 29 families with non-syndromic HI. Additionally, the GJB6-D3S1830 deletion was not identified in any of the HI patients. This study confirms that mutations in the GJB2 gene and the del(GJB6-D13S1830) mutation do not contribute to familial HI in Cameroon.en_US
dc.description.sponsorshipThe Wellcome Trust, grant number 107755Z/15/Z to GAA and AW (co-applicants); NIH, USA, grant number U01-HG-009716 to AW, and the African Academy of Science/Wellcome Trust, grant number H3A/18/001 to AWen_US
dc.identifier.otherdoi: 10.3390/genes10110844.
dc.identifier.urihttp://ugspace.ug.edu.gh/handle/123456789/33839
dc.language.isoenen_US
dc.publisherGenesen_US
dc.relation.ispartofseries10;11
dc.subjecthearing impairmenten_US
dc.subjectgeneticsen_US
dc.subjectGJB2en_US
dc.subjectGJB6en_US
dc.subjectCameroonen_US
dc.subjectAfricaen_US
dc.titleGJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroonen_US
dc.typeArticleen_US

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