Figure 1.

Additional genetic variants identified in four 46,XY patients with disordered/different sex development harboring heterozygous NR5A1/SF-1 disease-causing variants depicted with respect to the known pathways of male sex determination and differentiation. The scheme shows an overview of involved genes and their interrelationship. It emphasizes on SF-1, which seems to play an important role throughout all developmental processes (indicated by a thick line). Genes with variants identified by whole exome sequencing in the patients have specific colors. In violet: candidate gene in patient 1; in blue: candidate genes in patient 2; in green: candidate genes in patient 3; in red: candidate genes in patient 4; in grey: known genes involved in sexual development. Interrogation mark (?): function/timing/location is not clear; arrows: regulation/co-activation; dotted arrows: genes with binding regions for SF-1, SRY, and/or SOX9; lines: interaction/partnership; dashed lines: related genes, but thus far unclear how exactly; thick dashed arrows: hormone production. Modified from [13].