Novel mutations related to simultaneous congenital nephropathy and ovarian insufficiency.

Nucleoporins, as major components of nuclear pore complex, have been recently discovered to participate in organ development. Here, we report a young female patient with nephrotic proteinuria resistant to immune suppressant treatment and congenital ovarian insufficiency. Renal pathology confirmed focal segmental glomerulosclerosis and whole-exome sequencing revealed compound heterozygous mutations in Nucleoporin 160 (), NM_015231.2 c.4154C>T (p.Pro1385Leu) and c.1102-9T>G. Notably, mutations have been associated with congenital nephropathy in four families. We also ruled out competing genetic variants implicated in focal segmental glomerulosclerosis and ovarian dysgenesis. Our identification of two novel mutations associated with congenital nephropathy and ovarian insufficiency simultaneously contributes to a deeper understanding of nuclear pore complex function in the urogenital system.