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

BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z.

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: Focal segmental glomerulosclerosis; Genetics; Inherited diseases; Steroid-resistant nephrotic syndrome; Whole exome sequencing.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child, Preschool
  • Drug Resistance / genetics
  • Female
  • Humans
  • Mutation*
  • Nephrotic Syndrome / drug therapy*
  • Nephrotic Syndrome / genetics*
  • Nuclear Pore Complex Proteins / genetics*
  • Phenotype*

Substances

  • Nuclear Pore Complex Proteins
  • Nup93 protein, human