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Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans

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dc.contributor.authorBosch, J.
dc.contributor.authorNoubiap, J.J.N.
dc.contributor.authorDandara, C.
dc.contributor.authorMakubalo, N.
dc.contributor.authorWright, G.
dc.contributor.authorEntfellner, J.-B.D.
dc.contributor.authorTiffin, N.
dc.contributor.authorWonkam, A.
dc.date.issued2014
dc.description.abstractMutations in the GJB2 gene, encoding connexin 26, could account for 50% of congenital, nonsyndromic, recessive deafness cases in some Caucasian/Asian populations. There is a scarcity of published data in subSaharan Africans. We Sanger sequenced the coding region of the GJB2 gene in 205 Cameroonian and Xhosa South Africans with congenital, nonsyndromic deafness; and performed bioinformatic analysis of variations in the GJB2 gene, incorporating data from the 1000 Genomes Project. Amongst Cameroonian patients, 26.1% were familial. The majority of patients (70%) suffered from sensorineural hearing loss. Ten GJB2 genetic variants were detected by sequencing. A previously reported pathogenic mutation, g.3741_3743delTTC (p.F142del), and a putative pathogenic mutation, g.3816G > A (p.V167M), were identified in single heterozygous samples. Amongst eight the remaining variants, two novel variants, g.3318-41G > A and g.3332G > A, were reported. There were no statistically significant differences in allele frequencies between cases and controls. Principal Components Analyses differentiated between Africans, Asians, and Europeans, but only explained 40% of the variation. The present study is the first to compare African GJB2 sequences with the data from the 1000 Genomes Project and have revealed the low variation between population groups. This finding has emphasized the hypothesis that the prevalence of mutations in GJB2 in nonsyndromic deafness amongst European and Asian populations is due to founder effects arising after these individuals migrated out of Africa, and not to a putative ‘‘protective’’ variant in the genomic structure of GJB2 in Africans. Our results confirm that mutations in GJB2 are not associated with nonsyndromic deafness in Africans.
dc.description.statementofresponsibilityJason Bosch, Jean Jacques N. Noubiap, Collet Dandara, Nomlindo Makubalo, Galen Wright, Jean-Baka Domelevo Entfellner, Nicki Tiffin, Ambroise Wonkam
dc.identifier.citationOMICS A Journal of Integrative Biology, 2014; 18(11):705-710
dc.identifier.doi10.1089/omi.2014.0063
dc.identifier.issn1536-2310
dc.identifier.issn1557-8100
dc.identifier.urihttps://hdl.handle.net/2440/133590
dc.language.isoen
dc.publisherMary Ann Liebert, Inc.
dc.rights© 2014, Mary Ann Liebert, Inc.
dc.source.urihttps://doi.org/10.1089/omi.2014.0063
dc.subjectAfrican Continental Ancestry Group
dc.subjectCameroon
dc.subject.meshHumans
dc.subject.meshDeafness
dc.subject.meshHearing Loss, Sensorineural
dc.subject.meshConnexins
dc.subject.meshComputational Biology
dc.subject.meshPhylogeny
dc.subject.meshBase Sequence
dc.subject.meshGene Frequency
dc.subject.meshGenotype
dc.subject.meshHeterozygote
dc.subject.meshMutation
dc.subject.meshAdolescent
dc.subject.meshAfrican Continental Ancestry Group
dc.subject.meshCameroon
dc.subject.meshSouth Africa
dc.subject.meshFemale
dc.subject.meshMale
dc.subject.meshGenetic Variation
dc.subject.meshConnexin 26
dc.titleSequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans
dc.typeJournal article
pubs.publication-statusPublished

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