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Review
. 2024 May 25;15(6):683.
doi: 10.3390/genes15060683.

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa

Chioma N P Mbachu  1   2 , Ikechukwu Innocent Mbachu  3 , Randi Hagerman  2   4
Affiliations
Review

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa

Chioma N P Mbachu et al. Genes (Basel). .

Abstract

Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.

Keywords: Africa; fragile X premutation-associated conditions; fragile X syndrome; treatment.

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Conflict of interest statement

R.H. has received funding from Zynerba and Tetra Pharma companies to carry out treatment studies in those with Fragile X Syndrome. The other authors declare no conflict of interest.

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