Fig. 2

Sequencing results and bioinformatic analysis of the NR5A1 gene variant identified in our study. a Partial sequence diagram of NR5A1 in our case. A novel heterozygous variant in NR5A1 gene (c.929A > C) of II-1, resulting in the 310th amino acid of the encoded protein from histidine to proline, is shown by an arrow. b Location and structure NR5A1. The NR5A1 gene consists of one non-coding exon (exon 1) and six coding exons (exons 2–7). It encodes SF-1, consisting of 461 amino acids, which contains a DNA binding domain (DBD), a ligand binding domain (LBD), two function activation domains (AF-1 and AF-2), an auxiliary region and a hinge region. This novel variant (His310Pro) is located in the LBD and is predicted to cause a ligand-NR5A1-binding disorder and lead to NR5A1 dysfunction in sex differentiation, sexual development and steroidogenesis. c Prediction of the novel damaging variant c.929A > C (p. His310Pro) in MutationTaster. d Cross-species conservation of NR5A1 around p. His310 is displayed. e Protein structure prediction of wild-type and mutant NR5A1