Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits | Zendy

Yurika Tsuji | Zendy; Kandai Nozu | Zendy; Tadashi Sofue | Zendy; Shigeo Hara | Zendy; Keita Nakanishi | Zendy; Tomohiko Yamamura | Zendy; Shogo Minamikawa | Zendy; Yoshimi Nozu | Zendy; Hiroshi Kaito | Zendy; Junya Fujimura | Zendy; Tomoko Horinouchi | Zendy; Naoya Morisada | Zendy; Ichiro Morioka | Zendy; Mariko TaniguchiIkeda | Zendy; Masafumi Matsuo | Zendy; Kazumoto Iijima | Zendy

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Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits

Author(s) -

Yurika Tsuji,

Kandai Nozu,

Tadashi Sofue,

Shigeo Hara,

Keita Nakanishi,

Tomohiko Yamamura,

Shogo Minamikawa,

Yoshimi Nozu,

Hiroshi Kaito,

Junya Fujimura,

Tomoko Horinouchi,

Naoya Morisada,

Ichiro Morioka,

Mariko TaniguchiIkeda,

Masafumi Matsuo,

Kazumoto Iijima

Publication year - 2017

Publication title -

the nephron journals/nephron journals

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.951

H-Index - 72

eISSN - 2235-3186

pISSN - 1660-8151

DOI - 10.1159/000484209

Subject(s) - minigene , rna splicing , microbiology and biotechnology , exon , intron , medicine , biology , rna , gene , genetics

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.

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