Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
oleh: Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A. Zerillo, Monica Konstantino, Saquib A. Lakhani, Mustafa K. Khokha, Jillian K. Warejko
| Format: | Article |
|---|---|
| Diterbitkan: | BMC 2019-07-01 |
Deskripsi
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.