title: Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
abstract: Glomerular deposition of fibrillar collagen is a characteristic finding of genetically distinct conditions, including nail-patella syndrome and collagen type III glomerulopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses due to mutation of the EXT1 gene is described. This gene encodes a glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans. There is deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas. Similar glomerular basement membrane abnormalities could offer an explanation for both the renal ultrastructural changes and steroid-sensitive nephrotic syndrome.
authors.affiliation: Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. ian.roberts@orh.nhs.uk
authors.forename: Ian S D
authors.initials: IS
authors.lastname: Roberts
authors.forename: Jonathan M
authors.initials: JM
authors.lastname: Gleadle
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005097:Exostoses, Multiple Hereditary / Q000150:complications / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology / Q000503:physiopathology; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D009261:Nail-Patella Syndrome / Q000175:diagnosis; D009404:Nephrotic Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1