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Mutation Profile of SOX9, DAX1, and SRY Genes in Senegalese Patients with Disorders of Sex Development

The genes SRY, SOX9 and DAX1, key genes in human sex determination, due to their associated sex-reversal phenotypes (Figure 1) upon mutation (SRY, SOX9) or overexpression (SOX9, DAX1). The objective of this study was to characterize mutations occurring in SRY, DAX1 and SOX9 genes known to be implicated in the sexual determinism to better understand disorders of sex development (DSD) in our population. 87 DSD patients were identified and for which we carried out a clinical review and karyotype. Moreover, molecular analysis of the SRY, SOX9, and DAX1 genes (PCR amplification, Sanger sequencing and expression by qPCR) have been done. Based on the results, it was found in patients 46, XX an absence of female internal genitals or the presence of testicles depending on the patients while for patients 46, XY no testicles were found. Among the 87 patients, the genomic DNA of 29 of them was extracted and used for molecular analysis, which identified 4 patients 46, XX SRY positive and 2 patients 46, XY SRY negative. In addition, the sequencing of the SRY, SOX9 and DAX1 genes revealed different mutations, including two new for SRY (c.265 G>A, p.89Glu>Lys in 2 patients 46, XY and c.171 G>C, p.57Gln>His in a patient 46, XX) and one variant (c.349 G>C, p.117Gln>Glu) in coding sequence for SOX9 in a 46, XY SRY positive patient while for DAX1, any new mutation was found. These results highlight the differences in the expression of the SRY, SOX9 and DAX1 genes in the determination of sex in humans and increase the spectrum of mutations of genes in cascade. The complexity of gene interactions that lead to the development of the bipotential gonad to a testicle or ovary is increasingly recognized, but there is still much to be done.


Fatou Diop Gueye, Arame Ndiaye, Mame Venus Gueye, Ndiaga Diop, Adji Dieynaba Diallo, et al. (2023). Mutation Profile of SOX9, DAX1, and SRY Genes in Senegalese Patients with Disorders of Sex Development. International Journal of Genetics and Genomics, 11(3), 71-80.

Copyright © 2023 Authors retain the copyright of this article.
This article 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.

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