Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Genetics of hearing impairment and peripheral neuropathy in Mali
Background Hearing impairment (HI), the most common sensory disturbance, affects about 1 in 1000 living newborns globally. Its incidence is reported higher in sub-Saharan African (SSA) populations. HI is caused by environmental and genetics factors. In many developing countries, environmental factor...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Pathology
2023
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1867613651034177536 |
|---|---|
| access_status_str | Open Access |
| author | Yalcouye, Abdoulaye |
| author2 | Wonkam, Ambroise |
| author_browse | Wonkam, Ambroise Yalcouye, Abdoulaye |
| author_facet | Wonkam, Ambroise Yalcouye, Abdoulaye |
| author_sort | Yalcouye, Abdoulaye |
| collection | Thesis |
| description | Background Hearing impairment (HI), the most common sensory disturbance, affects about 1 in 1000 living newborns globally. Its incidence is reported higher in sub-Saharan African (SSA) populations. HI is caused by environmental and genetics factors. In many developing countries, environmental factors are reported to be the most prevalent aetiologies while genetic causes are predominant in the developed countries. Over 50% of congenital HI has a genetic origin with more than 120 genes identified to date. Despite this large number of known genes, only GJB2 (OMIM: 121011) and GJB6 (OMIM: 604418) are systematically studied in SSA populations for which the prevalence of HI-causal variants is insignificant. Charcot-Marie-Tooth disease (CMT), is the most common inherited peripheral neuropathy (IPN) with a high clinical and genetic heterogeneity and over 100 genes are related to CMT, mostly in populations of Caucasian ancestry. Yet, despite being described more than 130 years ago, there remains a paucity of information on its global prevalence and genetic epidemiology due largely to challenges in diagnosis, especially in countries with limited resources. Over 90% of CMT are caused by mutations in PMP22 (OMIM: 601097), GJB1 (OMIM: 304040), MFN2 (OMIM: 608507), MPZ (OMIM: 159440) genes. HI is the common audiological symptom associated with CMT and is caused by several genes including PMP22 and GJB1. HI and IPN are inherited in autosomal (dominant and recessive), X-linked, and mitochondrial transmission. However, the genetic epidemiology of these diseases are largely unknown in Africa, and have not been investigated in Mali where consanguineous marriage is a common practice that may increase recessive conditions. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/38067 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:39:31.961Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | Department of Pathology |
| publisherStr | Department of Pathology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/38067 Genetics of hearing impairment and peripheral neuropathy in Mali Yalcouye, Abdoulaye Wonkam, Ambroise Chimusa Emile Human Genetics Background Hearing impairment (HI), the most common sensory disturbance, affects about 1 in 1000 living newborns globally. Its incidence is reported higher in sub-Saharan African (SSA) populations. HI is caused by environmental and genetics factors. In many developing countries, environmental factors are reported to be the most prevalent aetiologies while genetic causes are predominant in the developed countries. Over 50% of congenital HI has a genetic origin with more than 120 genes identified to date. Despite this large number of known genes, only GJB2 (OMIM: 121011) and GJB6 (OMIM: 604418) are systematically studied in SSA populations for which the prevalence of HI-causal variants is insignificant. Charcot-Marie-Tooth disease (CMT), is the most common inherited peripheral neuropathy (IPN) with a high clinical and genetic heterogeneity and over 100 genes are related to CMT, mostly in populations of Caucasian ancestry. Yet, despite being described more than 130 years ago, there remains a paucity of information on its global prevalence and genetic epidemiology due largely to challenges in diagnosis, especially in countries with limited resources. Over 90% of CMT are caused by mutations in PMP22 (OMIM: 601097), GJB1 (OMIM: 304040), MFN2 (OMIM: 608507), MPZ (OMIM: 159440) genes. HI is the common audiological symptom associated with CMT and is caused by several genes including PMP22 and GJB1. HI and IPN are inherited in autosomal (dominant and recessive), X-linked, and mitochondrial transmission. However, the genetic epidemiology of these diseases are largely unknown in Africa, and have not been investigated in Mali where consanguineous marriage is a common practice that may increase recessive conditions. 2023-07-11T12:51:22Z 2023-07-11T12:51:22Z 2023 2023-07-11T12:51:00Z Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/38067 eng application/pdf Department of Pathology Faculty of Health Sciences |
| spellingShingle | Human Genetics Yalcouye, Abdoulaye Genetics of hearing impairment and peripheral neuropathy in Mali |
| thesis_degree_str | Doctoral |
| title | Genetics of hearing impairment and peripheral neuropathy in Mali |
| title_full | Genetics of hearing impairment and peripheral neuropathy in Mali |
| title_fullStr | Genetics of hearing impairment and peripheral neuropathy in Mali |
| title_full_unstemmed | Genetics of hearing impairment and peripheral neuropathy in Mali |
| title_short | Genetics of hearing impairment and peripheral neuropathy in Mali |
| title_sort | genetics of hearing impairment and peripheral neuropathy in mali |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/38067 |
| work_keys_str_mv | AT yalcouyeabdoulaye geneticsofhearingimpairmentandperipheralneuropathyinmali |