Version 1
: Received: 25 April 2024 / Approved: 26 April 2024 / Online: 26 April 2024 (08:15:57 CEST)
How to cite:
Mbachu, C.N.; Mbachu, I.; Hagerman, R. A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. Preprints2024, 2024041713. https://doi.org/10.20944/preprints202404.1713.v1
Mbachu, C.N.; Mbachu, I.; Hagerman, R. A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. Preprints 2024, 2024041713. https://doi.org/10.20944/preprints202404.1713.v1
Mbachu, C.N.; Mbachu, I.; Hagerman, R. A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. Preprints2024, 2024041713. https://doi.org/10.20944/preprints202404.1713.v1
APA Style
Mbachu, C.N., Mbachu, I., & Hagerman, R. (2024). A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa. Preprints. https://doi.org/10.20944/preprints202404.1713.v1
Chicago/Turabian Style
Mbachu, C.N., Ikechukwu Mbachu and Randi Hagerman. 2024 "A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa" Preprints. https://doi.org/10.20944/preprints202404.1713.v1
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), also caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, is 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, epidemiology, clinical features and challenges faced, such as discrimination against affected persons, limited awareness and research, poor access to resources and genetic services and treatment. It further provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of these disorders. This review will improve 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 in the region.
Keywords
Fragile X syndrome; Fragile X premutation associated conditions; Africa
Subject
Medicine and Pharmacology, Clinical Medicine
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
