title: Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
abstract: Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.
authors.affiliation: Department of Nephrology, Radboud University Medical Centre, Nijmegen.
authors.forename: I M
authors.initials: IM
authors.lastname: Rood
authors.forename: E M H F
authors.initials: EM
authors.lastname: Bongers
authors.forename: D
authors.initials: D
authors.lastname: Lugtenberg
authors.forename: I H H T
authors.initials: IH
authors.lastname: Klein
authors.forename: E J
authors.initials: EJ
authors.lastname: Steenbergen
authors.forename: J F M
authors.initials: JF
authors.lastname: Wetzels
authors.forename: J K J
authors.initials: JK
authors.lastname: Deegens
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D000080865:Formins; D005820:Genetic Testing; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis*; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
chemical_list: C587953:Fmn2 protein, human; D000080865:Formins; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D004247:DNA