Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation
ISD Roberts, JM Gleadle - Journal of the American Society of …, 2008 - journals.lww.com
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 …
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 …