Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review

Frontiers in Genetics

Genetics

Heather Seymour¹  Zané Lombard¹  Shelley Macaulay¹  Patracia Nevondwe¹  Fiona Baine-Savanhu¹  Amanda Krause¹  Nadja Louw¹  Alanna Bollweg¹  Mhlekazi Molatoli¹  Kaitlyn Flynn¹  Nadia Carstens² 

[1] Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa;Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa;Genomics Platform, South African Medical Research Council, Cape Town, South Africa;

关键词: developmental disorder;    intellectual disability;    genetic disorder;    genetic testing;    Africa;   

DOI  :  10.3389/fgene.2023.1137922

 received in 2023-01-06, accepted in 2023-04-12,  发布年份 2023

来源: Frontiers

【 摘 要 】

Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in studies into the genetic aetiology of DD/ID, with a dearth of data from Africa. This systematic review aimed to comprehensively describe the current knowledge from the African continent on this topic.Method: Applicable literature published up until July 2021 was retrieved from PubMed, Scopus and Web of Science databases, following PRISMA guidelines, focusing on original research reports on DD/ID where African patients were the focus of the study. The quality of the dataset was assessed using appraisal tools from the Joanna Briggs Institute, whereafter metadata was extracted for analysis.Results: A total of 3,803 publications were extracted and screened. After duplicate removal, title, abstract and full paper screening, 287 publications were deemed appropriate for inclusion. Of the papers analysed, a large disparity was seen between work emanating from North Africa compared to sub-Saharan Africa, with North Africa dominating the publications. Representation of African scientists on publications was poorly balanced, with most research being led by international researchers. There are very few systematic cohort studies, particularly using newer technologies, such as chromosomal microarray and next-generation sequencing. Most of the reports on new technology data were generated outside Africa.Conclusion: This review highlights how the molecular epidemiology of DD/ID in Africa is hampered by significant knowledge gaps. Efforts are needed to produce systematically obtained high quality data that can be used to inform appropriate strategies to implement genomic medicine for DD/ID on the African continent, and to successfully bridge healthcare inequalities.

【 授权许可】

Unknown   
Copyright © 2023 Baine-Savanhu, Macaulay, Louw, Bollweg, Flynn, Molatoli, Nevondwe, Seymour, Carstens, Krause and Lombard.