A high-impact FN1 variant correlates with fibronectin-mediated glomerulopathy via decreased binding to collagen type IV.
Qiu J, Chi H, Gan C, Zhou X, Chen D, Yang Q, Chen Y, Wang M, Yang H, Jiang W, Li Q.
Qiu J, et al.
Pathology. 2023 Jun;55(4):498-507. doi: 10.1016/j.pathol.2022.10.016. Epub 2023 Jan 20.
Pathology. 2023.
PMID: 36774238
Free article.
In this study, we identified a novel mutation (c.3415G>A) in FN1 that causes glomerular fibronectin-specific deposition in a gain-of-function manner, that may be associated with thin basement membrane nephropathy (TBMN) and expand the spectrum of phenotypes seen in glomerul …
In this study, we identified a novel mutation (c.3415G>A) in FN1 that causes glomerular fibronectin-specific deposition in a gain-of-func …