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- Title
Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
- Authors
Antignac, Corinne; Jing Zhou; Sanak, Marek; Cochat, Pierre; Roussel, Bernard; Deschênes, Georges; Gros, Françoise; Knebelmann, Bertrand; Hors-Cayla, Marie-Claude; Tryggvason, Karl; Marie-Claire Gubler; Antignac, C; Zhou, J; Sanak, M; Cochat, P; Roussel, B; Deschênes, G; Gros, F; Knebelmann, B; Hors-Cayla, M C
- Abstract
Alport syndrome (AS) is an hereditary glomerulonephritis that is mainly inherited as a dominant X-linked trait. Structural abnormalities in the type IV collagen alpha 5 chain gene (COL4A5), which maps to Xq22, have recently been detected in several patients with AS. The association of AS with diffuse esophageal leiomyomatosis (DL) has been reported in 24 patients, most of them also suffering from congenital cataract. The mode of transmission and the location of the gene(s) involved in this association have not been elucidated. Southern blotting using cDNA probes spanning the whole COL4A5 and a 5' end COL4A5 genomic probe showed that three out of three patients with the DL-AS association had a deletion in the 5' part of the COL4A5 gene extending beyond its 5' end. This indicates that the same gene, COL4A5, is involved in classical AS and in DL-AS and that the transmission of DL-AS is X-linked dominant. These results also suggest that leiomyomatosis might be due to the alteration of a second gene involved in smooth muscle cell proliferation, which is located upstream of the COL4A5 gene, and that there might be a contiguous gene deletion syndrome, involving at least the genes coding for congenital cataract, DL and AS.
- Subjects
CONNECTIVE tissues; EXTRACELLULAR matrix proteins; DNA probes; SMOOTH muscle; MUSCLE cells; CELL division; CELL proliferation; CELL growth; CHROMOSOMES; COLLAGEN; COMPARATIVE studies; ESOPHAGEAL tumors; GENES; GENETIC disorders; GENETICS; NEPHRITIS; RESEARCH methodology; MEDICAL cooperation; GENETIC mutation; NUCLEIC acid hybridization; RESEARCH; UTERINE fibroids; EVALUATION research; SEQUENCE analysis; DISEASE complications
- Publication
Kidney International, 1992, Vol 42, Issue 5, p1178
- ISSN
0085-2538
- Publication type
journal article
- DOI
10.1038/ki.1992.402