Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden
| dc.contributor.author | Adadey, Samuel Mawuli | |
| dc.contributor.author | Wonkam-Tingang, Edmond | |
| dc.contributor.author | Twumasi Aboagye, Elvis | |
| dc.contributor.author | Nayo-Gyan, Daniel Wonder | |
| dc.contributor.author | Boatemaa Ansong, Maame | |
| dc.contributor.author | Quaye, Osbourne | |
| dc.contributor.author | Awandare, Gordon A. | |
| dc.contributor.author | Wonkam, Ambroise | |
| dc.date.accessioned | 2021-10-12T11:20:48Z | |
| dc.date.available | 2021-10-12T11:20:48Z | |
| dc.date.issued | 2020-10-28 | |
| dc.date.updated | 2020-11-26T14:08:13Z | |
| dc.description.abstract | Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (<i>n</i> = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and <i>GJB2</i> (520/571 publications) was the most studied among the seven. Excluding PLP in <i>GJB2</i>, <i>GJB6</i>, and <i>GJA1</i> the other connexin gene variants (thus <i>GJB3</i>, <i>GJB4</i>, <i>GJC3</i>, and <i>GJC1</i> variants) had conflicting association with HI. Biallelic <i>GJB2</i> PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common <i>GJB2</i> alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only <i>GJB2</i> and <i>GJB3</i> are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globally. | en_US |
| dc.identifier | doi: 10.3390/life10110258 | |
| dc.identifier.apacitation | Adadey, S. M., Wonkam-Tingang, E., Twumasi Aboagye, E., Nayo-Gyan, D. W., Boatemaa Ansong, M., Quaye, O., ... Wonkam, A. (2020). Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. <i>Life</i>, 10(11), http://hdl.handle.net/11427/35201 | en_ZA |
| dc.identifier.chicagocitation | Adadey, Samuel Mawuli, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Daniel Wonder Nayo-Gyan, Maame Boatemaa Ansong, Osbourne Quaye, Gordon A. Awandare, and Ambroise Wonkam "Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden." <i>Life</i> 10, 11. (2020) http://hdl.handle.net/11427/35201 | en_ZA |
| dc.identifier.citation | Adadey, S.M., Wonkam-Tingang, E., Twumasi Aboagye, E., Nayo-Gyan, D.W., Boatemaa Ansong, M., Quaye, O., Awandare, Gordon A. & Wonkam, A. et al. 2020. Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. <i>Life.</i> 10(11) http://hdl.handle.net/11427/35201 | en_ZA |
| dc.identifier.ris | TY - Journal Article AU - Adadey, Samuel Mawuli AU - Wonkam-Tingang, Edmond AU - Twumasi Aboagye, Elvis AU - Nayo-Gyan, Daniel Wonder AU - Boatemaa Ansong, Maame AU - Quaye, Osbourne AU - Awandare, Gordon A. AU - Wonkam, Ambroise AB - Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (<i>n</i> = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and <i>GJB2</i> (520/571 publications) was the most studied among the seven. Excluding PLP in <i>GJB2</i>, <i>GJB6</i>, and <i>GJA1</i> the other connexin gene variants (thus <i>GJB3</i>, <i>GJB4</i>, <i>GJC3</i>, and <i>GJC1</i> variants) had conflicting association with HI. Biallelic <i>GJB2</i> PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common <i>GJB2</i> alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only <i>GJB2</i> and <i>GJB3</i> are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globally. DA - 2020-10-28 DB - OpenUCT DP - University of Cape Town IS - 11 J1 - Life LK - https://open.uct.ac.za PY - 2020 T1 - Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden TI - Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden UR - http://hdl.handle.net/11427/35201 ER - | en_ZA |
| dc.identifier.uri | https://doi.org/10.3390/life10110258 | |
| dc.identifier.uri | http://hdl.handle.net/11427/35201 | |
| dc.identifier.vancouvercitation | Adadey SM, Wonkam-Tingang E, Twumasi Aboagye E, Nayo-Gyan DW, Boatemaa Ansong M, Quaye O, et al. Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life. 2020;10(11) http://hdl.handle.net/11427/35201. | en_ZA |
| dc.language.iso | en | en_US |
| dc.publisher.department | Division of Human Genetics | en_US |
| dc.publisher.faculty | Faculty of Health Sciences | en_US |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | en_US |
| dc.source | Life | en_US |
| dc.source.journalissue | 11 | en_US |
| dc.source.journalvolume | 10 | en_US |
| dc.source.uri | https://www.mdpi.com/journal/life | |
| dc.title | Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden | en_US |
| dc.type | Journal Article | en_US |