ArticleHuman mutation2018
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 48 citations in OpenAlex.
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Post-translational modification of proteins in the human testis development pathway.Human reproduction update · 2026Review
- Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis.Endocrine connections · 2026Article
- Article
- Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.Endocrine connections · 2025Article
- NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation.Journal, genetic engineering & biotechnology · 2025Article
- Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.EBioMedicine · 2025Article
- Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.Frontiers in endocrinology · 2025Article
- Article
- Case report: Rare heterozygous variant in theFrontiers in medicine · 2024Article
- Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.EBioMedicine · 2024Article
- A Novel Variant inJCEM case reports · 2023Article
- Article
- Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development.Molecular genetics & genomic medicine · 2022Article
- Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2022Observational
- Analysis of genetic variants in myeloproliferative neoplasms using a 22-gene next-generation sequencing panel.BMC medical genomics · 2022Article
- Fadrozole-mediated sex reversal in the embryonic chicken gonad involves a PAX2 positive undifferentiated supporting cell state.Frontiers in cell and developmental biology · 2022Article
- Translational aspects of novel findings in genetics of male infertility-status quo 2021.British medical bulletin · 2021Review
- Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
19 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development. There was little correlation between the severity of the phenotype and the nature of the NR5A1 variant. We report two familial cases of NR5A1 deficiency with evidence of variable expressivity; we also report on individuals with oligogenic inheritance. Finally, we found that the nature of the NR5A1 variant does not inform patient outcomes (including pubertal androgenization and malignancy risk). This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute.
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