title: Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
abstract: Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.
authors.affiliation: Renal Division, Washington University School of Medicine, St Louis, Missouri, USA.
authors.forename: Jeffrey H
authors.initials: JH
authors.lastname: Miner
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics*; D006801:Humans; D008297:Male
chemical_list: D001324:Autoantigens; D024141:Collagen Type IV