Genetics of hearing loss in africans: use of next generation sequencing is the best way forward
Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems. Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
The Pan African Medical Journal
2015-04-01
|
| Series: | The Pan African Medical Journal |
| Subjects: | |
| Online Access: |
https://www.panafrican-med-journal.com/content/article/20/383/pdf/383.pdf
|
| _version_ | 1819125598702796800 |
|---|---|
| author | Kamogelo Lebeko Jason Bosch Jean Jacques Nzeale Noubiap Collet Dandara Ambroise Wonkam |
| author_facet | Kamogelo Lebeko Jason Bosch Jean Jacques Nzeale Noubiap Collet Dandara Ambroise Wonkam |
| author_sort | Kamogelo Lebeko |
| collection | DOAJ |
| description | Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems. Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to genetic factors. Nonsyndromic hearing loss is the most common form of hearing loss accounting for up to 70% of cases. The most common mode of inheritance is autosomal recessive. The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin.For example, the c.35delG mutation ofGJB2 is found in 70% of ARNSHL patients of European descentand is rare in populations of otherethnicities.Other GJB2 mutations have been reported in various populations. The second most common mutations are found in theconnexin gene, GJB6, also with a high prevalencein patients of European descent.To date more than 60 genes have been associated with ARNSHL. We previously showed that mutations in GJB2, GJB6 and GJA1 are not significant causes of ARNSHL inpatients from African descents, i.e.Cameroonians and South AfricansIn order to resolve ARNSHL amongst sub-Saharan African patients, additional genes would need to be explored. Currently at least 60 genes are thought to play a role in ARNSHL thus the current approach using Sanger sequencing would not be appropriate as it would be expensive and time consuming.Next Generation sequencing (NGS) provides the best alternative approach.In this review, we reported on the success of using NGSas observed in various populations and advocate for the use of NGS to resolve cases of ARNSHL in sub-Saharan African populations. |
| first_indexed | 2024-12-22T07:42:41Z |
| format | Article |
| id | doaj.art-4a4606f4ca0a4d2e9fee81df27492a7d |
| institution | Directory Open Access Journal |
| issn | 1937-8688 1937-8688 |
| language | English |
| last_indexed | 2024-12-22T07:42:41Z |
| publishDate | 2015-04-01 |
| publisher | The Pan African Medical Journal |
| record_format | Article |
| series | The Pan African Medical Journal |
| spelling | doaj.art-4a4606f4ca0a4d2e9fee81df27492a7d2022-12-21T18:33:43ZengThe Pan African Medical JournalThe Pan African Medical Journal1937-86881937-86882015-04-012038310.11604/pamj.2015.20.383.52305230Genetics of hearing loss in africans: use of next generation sequencing is the best way forwardKamogelo Lebeko0Jason Bosch1Jean Jacques Nzeale Noubiap2Collet Dandara3Ambroise Wonkam4 Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems. Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to genetic factors. Nonsyndromic hearing loss is the most common form of hearing loss accounting for up to 70% of cases. The most common mode of inheritance is autosomal recessive. The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin.For example, the c.35delG mutation ofGJB2 is found in 70% of ARNSHL patients of European descentand is rare in populations of otherethnicities.Other GJB2 mutations have been reported in various populations. The second most common mutations are found in theconnexin gene, GJB6, also with a high prevalencein patients of European descent.To date more than 60 genes have been associated with ARNSHL. We previously showed that mutations in GJB2, GJB6 and GJA1 are not significant causes of ARNSHL inpatients from African descents, i.e.Cameroonians and South AfricansIn order to resolve ARNSHL amongst sub-Saharan African patients, additional genes would need to be explored. Currently at least 60 genes are thought to play a role in ARNSHL thus the current approach using Sanger sequencing would not be appropriate as it would be expensive and time consuming.Next Generation sequencing (NGS) provides the best alternative approach.In this review, we reported on the success of using NGSas observed in various populations and advocate for the use of NGS to resolve cases of ARNSHL in sub-Saharan African populations. https://www.panafrican-med-journal.com/content/article/20/383/pdf/383.pdf arnshlsub-saharan africanext generation sequencingwhole exome sequencingtargeted exome sequencinghearing lossotoscope |
| spellingShingle | Kamogelo Lebeko Jason Bosch Jean Jacques Nzeale Noubiap Collet Dandara Ambroise Wonkam Genetics of hearing loss in africans: use of next generation sequencing is the best way forward The Pan African Medical Journal arnshl sub-saharan africa next generation sequencing whole exome sequencing targeted exome sequencing hearing loss otoscope |
| title | Genetics of hearing loss in africans: use of next generation sequencing is the best way forward |
| title_full | Genetics of hearing loss in africans: use of next generation sequencing is the best way forward |
| title_fullStr | Genetics of hearing loss in africans: use of next generation sequencing is the best way forward |
| title_full_unstemmed | Genetics of hearing loss in africans: use of next generation sequencing is the best way forward |
| title_short | Genetics of hearing loss in africans: use of next generation sequencing is the best way forward |
| title_sort | genetics of hearing loss in africans use of next generation sequencing is the best way forward |
| topic | arnshl sub-saharan africa next generation sequencing whole exome sequencing targeted exome sequencing hearing loss otoscope |
| url |
https://www.panafrican-med-journal.com/content/article/20/383/pdf/383.pdf
|
| work_keys_str_mv | AT kamogelolebeko geneticsofhearinglossinafricansuseofnextgenerationsequencingisthebestwayforward AT jasonbosch geneticsofhearinglossinafricansuseofnextgenerationsequencingisthebestwayforward AT jeanjacquesnzealenoubiap geneticsofhearinglossinafricansuseofnextgenerationsequencingisthebestwayforward AT colletdandara geneticsofhearinglossinafricansuseofnextgenerationsequencingisthebestwayforward AT ambroisewonkam geneticsofhearinglossinafricansuseofnextgenerationsequencingisthebestwayforward |