Biallelic Mutations in Nuclear Pore Complex Subunit Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has central functions in nucleocytoplasmic transport, nuclear framework, and gene regulation. Nucleoporin 107 kDa (NUP107) is a component of the NPC central scaffold and is an essential protein in all eukaryotic cells. Here, we report on biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). These individuals have pathologically focal segmental glomerulosclerosis, a condition that leads to end-stage renal disease with high frequency.

Source: The American Journal of Human Genetics - September 24, 2015 Category: Genetics & Stem Cells Authors: Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, Akemi Shono, Satoko Matsunaga, Masaaki Shiina, Yasuhiro Mimura, Shintaro Imamura, Tomonori Hirose, Koji Okudela, Kandai Nozu, Yuko Akioka, Motoshi Hattori, Norishige Yoshikawa, Akiko Kitamura, Hae Il C Tags: Article Source Type: research