Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study
Authors' conclusion
Genetic analyses and functional assays do not explain the observed wide phenotype of individuals with these novel NR5A1/SF-1 variants. In 9 individuals, additional likely disease-causing variants in other genes were found, strengthening the hypothesis that the broad phenotype of DSD associated with NR5A1/SF-1 variants may be caused by an oligogenic mechanism.
Study context
- Population
- Individuals with differences of sex development (DSD) carrying novel NR5A1/SF-1 variants, SF1next cohort35 novel variants
- Outcome
- Functional characterization of novel NR5A1/SF-1 variants
Methodological detailsin silico prediction, functional assays in HEK293T cells
- In silico prediction
- Functional assays in HEK293T cells
Main finding
As reported in the abstract
Novel NR5A1/SF-1 variants identified
35
Missense variants functionally tested
17
Reduced transactivation activity, variants in DNA binding domain
40%
Variants with affected nuclear translocation
3 of 17
Further findings
- Individuals with additional likely disease-causing variants in other genes
- 9
Original publication
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study. J Clin Endocrinol Metab. Published 16 April 2024. doi:10.
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