NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation.

ABSTRACT: The NR5A1 gene, encoding Steroidogenic Factor 1 (SF-1), plays a critical role in sex differentiation and spermatogenesis. However, data on NR5A1 variants in sub-Saharan African populations remain limited. This exploratory pilot study aimed to identify and characterize NR5A1 variants in infertile Senegalese men and to assess genotype-phenotype correlations. We conducted a cross-sectional study in 23 infertile Senegalese men, and exons 2 -7 of NR5A1 were sequenced using the Sanger method. Detected variants were analyzed with in silico prediction tools and filtered for rarity (minor allele frequency < 1 %) using the gnomAD database. Genotype-phenotype associations were analyzed using Fisher's exact test. Eighty-three percent of patients harbored at least one NR5A1 variant. A novel heterozygou

SUBMITTER: Diallo AD 

PROVIDER: S-EPMC12510190 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature