Case Reports: Journal Article: Research Support, Non-U.S. Gov't: PDF OnlyMutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.Kitagawa, K; Nakanishi, K; Iijima, K; Nishio, H; Sado, Y; Sano, K; Nakamura, H; Yoshikawa, N Author Information Department of Pediatrics, Kobe University School of Medicine, Japan. Journal of the American Society of Nephrology : JASN 6(2):p 264-268, August 1995. | DOI: 10.1681/ASN.V62264 Buy Metrics Abstract Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane and neurosensory deafness. Mutations in the COL4A5 gene encoding the Type IV collagen alpha 5 chain have been reported to occur in patients with X-linked Alport syndrome. A girl with hematuric nephritis, characteristic basket-weave glomerular basement membrane changes, and abnormal expression of the Type IV collagen alpha 5 chain immunohistochemically, but no family history of nephritis, was identified. Mutation detection enhancement gel electrophoresis of the polymerase chain reaction-amplified exons of COL4A5 from this patient revealed a sequence variant in the exon 50 region. Sequence analysis of her polymerase chain reaction product demonstrated a single-base (C; nucleotide 4728 from the 5' end) deletion in exon 50. This novel mutation alters the reading frame and introduces a translation stop codon that would be expected to result in a noncollagenous domain with only 209, instead of the normal 229, amino acid residues. Gene tracking with restriction enzyme AfIIII demonstrated that her mother was normal. These findings represent a new mutation of the X-linked Alport syndrome in this patient and demonstrate that a COL4A5 gene mutation causes the abnormal expression of Type IV collagen alpha 5 chain protein. Copyright © 1995 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.