Genetics of hearing impairment and peripheral neuropathy in Mali

dc.contributor.advisorWonkam, Ambroise
dc.contributor.advisorChimusa Emile
dc.contributor.authorYalcouye, Abdoulaye
dc.date.accessioned2023-07-11T12:51:22Z
dc.date.available2023-07-11T12:51:22Z
dc.date.issued2023
dc.date.updated2023-07-11T12:51:00Z
dc.description.abstractBackground 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.
dc.identifier.apacitationYalcouye, A. (2023). <i>Genetics of hearing impairment and peripheral neuropathy in Mali</i>. (). ,Faculty of Health Sciences ,Department of Pathology. Retrieved from http://hdl.handle.net/11427/38067en_ZA
dc.identifier.chicagocitationYalcouye, Abdoulaye. <i>"Genetics of hearing impairment and peripheral neuropathy in Mali."</i> ., ,Faculty of Health Sciences ,Department of Pathology, 2023. http://hdl.handle.net/11427/38067en_ZA
dc.identifier.citationYalcouye, A. 2023. Genetics of hearing impairment and peripheral neuropathy in Mali. . ,Faculty of Health Sciences ,Department of Pathology. http://hdl.handle.net/11427/38067en_ZA
dc.identifier.ris TY - Doctoral Thesis AU - Yalcouye, Abdoulaye AB - 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. DA - 2023_ DB - OpenUCT DP - University of Cape Town KW - Human Genetics LK - https://open.uct.ac.za PY - 2023 T1 - Genetics of hearing impairment and peripheral neuropathy in Mali TI - Genetics of hearing impairment and peripheral neuropathy in Mali UR - http://hdl.handle.net/11427/38067 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/38067
dc.identifier.vancouvercitationYalcouye A. Genetics of hearing impairment and peripheral neuropathy in Mali. []. ,Faculty of Health Sciences ,Department of Pathology, 2023 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/38067en_ZA
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Pathology
dc.publisher.facultyFaculty of Health Sciences
dc.subjectHuman Genetics
dc.titleGenetics of hearing impairment and peripheral neuropathy in Mali
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationlevelPhD
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