A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family

A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family

Abstract Background Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated with proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, the gene that encodes fibronectin. Case presentation This report d...

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Bibliographic Details
Main Authors: Maria Luíza Gonçalves dos Reis Monteiro, Fabiano Bichuette Custódio, Precil Diego Miranda de Menezes Neves, Frederico Moraes Ferreira, Elieser Hitoshi Watanabe, Antônio Marcondes Lerário, Liliane Silvano de Araújo, Bruno Eduardo Pedroso Balbo, Vívian Christine Dourado Pinto, Lívia Maria Gruli Barbosa, Vilmar de Paiva Marques, Juliana Reis Machado, Marlene Antônia Reis, Luiz Fernando Onuchic
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Nephrology
Subjects:
Fibronectin deposits
Glomerulopathy
Pathogenic mutation
Protein structure analysis; whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12882-019-1507-7

Internet

http://link.springer.com/article/10.1186/s12882-019-1507-7

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