Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

Abstract

Abstract Background Monogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. Case presentation Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation. Conclusions NUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.

Keywords

• Steroid-resistant nephrotic syndrome
• Focal segmental glomerulosclerosis
• Whole exome sequencing
• Genetics
• Inherited diseases