Article
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
Nephron - 1 Jan 2018
Tsuji Yurika, Nozu Kandai, Sofue Tadashi, Hara Shigeo, Nakanishi Keita, Yamamura Tomohiko, Minamikawa Shogo, Nozu Yoshimi, Kaito Hiroshi, Fujimura Junya, Horinouchi Tomoko, Morisada Naoya, Morioka Ichiro, Taniguchi-Ikeda Mariko, Matsuo Masafumi, Iijima Kazumoto
Abstract excerpt
BACKGROUND/AIMS: Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a very rare inherited kidney disease caused by pathogenic variants in the FN1 gene. Only 9 exonic pathogenic variants in FN1, 9 at the heparin-binding site, and 1 at the integrin-binding site have been reported. No intronic variants in FN1 have been detected. METHODS: We found a pathogenic intronic variant in intron 36 (c.5888-2A>G)...
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