Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/133590
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | 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 |
Author: | Bosch, J. Noubiap, J.J.N. Dandara, C. Makubalo, N. Wright, G. Entfellner, J.-B.D. Tiffin, N. Wonkam, A. |
Citation: | OMICS: A Journal of Integrative Biology, 2014; 18(11):705-710 |
Publisher: | Mary Ann Liebert, Inc. |
Issue Date: | 2014 |
ISSN: | 1536-2310 1557-8100 |
Statement of Responsibility: | Jason Bosch, Jean Jacques N. Noubiap, Collet Dandara, Nomlindo Makubalo, Galen Wright, Jean-Baka Domelevo Entfellner, Nicki Tiffin, Ambroise Wonkam |
Abstract: | Mutations 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. |
Keywords: | African Continental Ancestry Group Cameroon |
Rights: | © 2014, Mary Ann Liebert, Inc. |
DOI: | 10.1089/omi.2014.0063 |
Published version: | http://dx.doi.org/10.1089/omi.2014.0063 |
Appears in Collections: | Chemistry publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.