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- Title
Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome.
- Authors
Naito, Ichiro; Kawai, Shinichiro; Nomura, Shinsuke; Sado, Yoshikazu; Osawa, Gengo
- Abstract
The renal immunohistochemical distribution of collagen IV chains was studied with a monoclonal antibody series recognizing the α1(IV) to α6(IV) chains in nine males with X-linked Alport syndrome whose COL4A5 mutation had been already identified. Two patients had a deletional mutation, six patients had a missense mutation and one patient had a splicing site mutation. The α3(IV) to α6(IV) chains were completely absent in the renal basement membrane of the two patients with a deletional mutation. On the contrary, in four of six patients with a missense mutation (substitution of a glycine within collagenous domain), antigenecity of the α3(IV) to α5(IV) chains was recognized in the glomerular basement membrane although it was weak. In addition, one of the remaining patients showed a normal histochemical pattern of all type IV collagen chains, while the rest one showed completely absent of the α3(IV) to α5(IV) chains at the same pattern of deletional mutation. One patient with a splice site mutation showed complete absence of the α3(IV) to α5(IV) chains from the glomerular basement membrane, but weak staining of the α5(IV) and α6(IV) chains from the Bowman's capsular basement membrane. Our observations indicated that there is variety in the staining of the α3(IV) to α6(IV) antibodies among male patients with COL4A5 mutations.
- Subjects
GENETIC mutation; COLLAGEN; MONOCLONAL antibodies; IMMUNOHISTOCHEMISTRY techniques; ALPORT syndrome; EAR diseases; EYE diseases; KIDNEY diseases
- Publication
Kidney International, 1996, Vol 50, Issue 1, p304
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1038/ki.1996.316