دورية أكاديمية
No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans
| العنوان: | No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans |
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| المؤلفون: | Wonkam, Ambroise, Bosch, Jason, Noubiap, Jean Jacques N, Lebeko, Kamogelo, Makubalo, Nomlindo, Dandara, Collet |
| المساهمون: | University of Yaoundé, National Health Laboratory Services (NHLS), South Africa, Universty of Cape Town, NRF, South Africa |
| المصدر: | South African Medical Journal; Vol 105, No 1 (2015); 23-26 ; 2078-5135 ; 0256-9574 |
| بيانات النشر: | South African Medical Association |
| سنة النشر: | 2014 |
| المجموعة: | South African Medical Journal (SAMJ) |
| مصطلحات موضوعية: | Medicine, ENT, Medical Genetics, Non-syndromic deafness, Africans, GJB2 (connexin 26), GJB6 (connexin 30), GJA1 (connexin 43) |
| جغرافية الموضوع: | Africa, South Africa, NA, Non Syndromic Hearing Loss |
| الوصف: | Background. Deafness is the most common sensory disability in the world. Globally, mutations in GJB2 (connexin 26) have been shown to play a major role in non-syndromic deafness. Two other connexin genes, GJB6 (connexin 30) and GJA1 (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in black Africans. We aimed to validate the utility of testing for GJB2, GJB6 and GJA1 in an African context.Methods. Two hundred and five patients with non-syndromic deafness from Cameroon and South Africa had the full coding regions of GJB2 sequenced. Subsequently, a carefully selected subset of 100 patients was further sequenced for GJB6 and GJA1 using Sanger cycle sequencing. In addition, the large-scale GJB6-D3S1830 deletion was investigated.Results. No pathogenic mutations that could explain the hearing loss were detected in GJB2, GJB6 or GJA1, and the GJB6-D3S1830 deletion was not detected. There were no statistically significant differences in genomic variations in these genes between patients and controls. A comprehensive literature review supported these findings.Conclusion. Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans and should not be investigated routinely in clinical practice. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | http://samj.org.za/index.php/samj/article/view/8814/6484Test; http://samj.org.za/index.php/samj/article/downloadSuppFile/8814/6589Test; http://samj.org.za/index.php/samj/article/downloadSuppFile/8814/6590Test; http://samj.org.za/index.php/samj/article/view/8814Test |
| DOI: | 10.7196/SAMJ.8814 |
| الإتاحة: | https://doi.org/10.7196/SAMJ.8814Test http://samj.org.za/index.php/samj/article/view/8814Test |
| حقوق: | Copyright of published material remains in the Authors’ name. This allows authors to use their work for their own non-commercial purposes without seeking permission from the Publisher, subject to properly acknowledging the Journal as the original place of publication. Authors are free to copy, print and distribute their articles, in full or in part, for teaching activities, and to deposit or include their work in their own personal or institutional database or on-line website. Authors are requested to inform the Journal/Publishers of their desire/intention to include their work in a thesis or dissertation or to republish their work in any derivative form (but not for commercial use). Material submitted for publication in the SAMJ is accepted provided it has not been published or submitted for publication elsewhere. Please inform the editorial team if the main findings of your paper have been presented at a conference and published in abstract form, to avoid copyright infringement. |
| رقم الانضمام: | edsbas.2760AC67 |
| قاعدة البيانات: | BASE |
| DOI: | 10.7196/SAMJ.8814 |
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