Article (Scientific journals)
Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.
Dukuze, Norbert; Hitayezu, Janvier; Uyisenga, Jeanne Primitive et al.
2026 • In Frontiers in Genetics, 17, p. 1718279
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Keywords :
Africa; chromosomal abnormalities; epigenetics; global developmental delay; intellectual disability; Molecular Medicine; Genetics; Genetics (clinical)
Abstract :
[en] [en] BACKGROUND: The genetic aetiology of global developmental delay (GDD) and intellectual disability (ID) in Africa is poorly understood. This review synthesises the available information on this topic. METHODS: Original articles published in the English language between January 2000 and June 2024 on the African population were included. Literature was retrieved from PubMed, Scopus, and Web of Science, in accordance with the PRISMA guidelines. RESULTS: Of all the 54 African countries, only 13 reported the genetic factors associated with GDD and ID. The genes related to GDD and ID were reported in Egypt (22), Tunisia (17), Morocco (16), South Africa (10), Algeria (4), Sudan (3), Libya (2), Nigeria (2), Rwanda (4), Mali (1), Cameroon (1), DRC (2), and Tanzania (1), although some genes were reported in more than one African country. At least 45 genes associated with GDD and ID have been reported in the African population, whereas 21 genes associated with these disorders are yet to be documented in Africa. CONCLUSION: This review provides, to the best of our knowledge, the first comprehensive review of the genetic aetiology of GDD and ID in Africa. It presents an imbalance of gene research on GDD and ID across African regions, with North African countries dominating this field of study.
Disciplines :
Genetics & genetic processes
Author, co-author :
Dukuze, Norbert ;  Université de Liège - ULiège > Faculté de Médecine > Doct. scienc. médi. ; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda ; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
Hitayezu, Janvier;  Department of Paediatrics, University Teaching Hospital of Kigali (CHUK), Kigali, Rwanda
Uyisenga, Jeanne Primitive ;  Université de Liège - ULiège > GIGA ; Department of Biology, College of Science and Technology, University of Rwanda, Kigali, Rwanda
Hakizimana, Olivier ;  Université de Liège - ULiège > GIGA ; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
Bours, Vincent ;  Université de Liège - ULiège > GIGA > GIGA Cancer - Human Genetics
Uwineza, Annette;  Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda ; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
Alagbonsi, Abdullateef Isiaka;  Department of Physiology, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
Language :
English
Title :
Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.
Publication date :
2026
Journal title :
Frontiers in Genetics
eISSN :
1664-8021
Publisher :
Frontiers Media SA, Switzerland
Volume :
17
Pages :
1718279
Peer reviewed :
Peer Reviewed verified by ORBi
Funding text :
The author(s) declared that financial support was received for this work and/or its publication. This study was sponsored by the African Academy of Sciences under its African Research Initiative for Scientific Excellence (ARISE), pilot programme (grant number ARISE-PP-40). This document has been produced with the financial assistance of the European Union (Grant no. DCI-PANAF/2020/420-028), through the African Research Initiative for Scientific Excellence (ARISE), pilot programme. ARISE is implemented by the African Academy of Sciences with support from the European Commission and the African Union Commission.
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since 06 September 2026

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