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| Item Type: | Article |
|---|---|
| Title: | Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome |
| Creators Name: | Weber, S., Thiele, H., Mir, S., Toliat, M.R., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmüller, J., Frommolt, P., Stuart, H.M, Ranjzad, P., Hanley, N.A., Jennings, R., Newman, W.G., Wilcox, D.T., Thiel, U., Schlingmann, K.P., Beetz, R., Hoyer, P.F., Konrad, M., Schaefer, F., Nürnberg, P. and Woolf, A.S. |
| Abstract: | Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice. |
| Keywords: | Base Sequence, Consanguinity, Frameshift Mutation, INDEL Mutation, Immunohistochemistry, Inborn Errors Metabolism, Knockout Mice, Molecular Models, Prune Belly Syndrome, Muscarinic M3 Receptor, Nucleic Acid Sequence Homology, Sex Factors, Urinary Bladder Neck Obstruction, Urinary Bladder, Animals, Mice |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | Cell Press |
| Volume: | 89 |
| Number: | 5 |
| Page Range: | 668-74 |
| Date: | 11 November 2011 |
| Official Publication: | https://doi.org/10.1016/j.ajhg.2011.10.007 |
| PubMed: | View item in PubMed |
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