| Literature DB >> 22077972 |
Stefanie Weber1, Holger Thiele, Sevgi Mir, Mohammad Reza Toliat, Betül Sozeri, Heiko Reutter, Markus Draaken, Michael Ludwig, Janine Altmüller, Peter Frommolt, Helen M Stuart, Parisa Ranjzad, Neil A Hanley, Rachel Jennings, William G Newman, Duncan T Wilcox, Uwe Thiel, Karl Peter Schlingmann, Rolf Beetz, Peter F Hoyer, Martin Konrad, Franz Schaefer, Peter Nürnberg, Adrian S Woolf.
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.Entities:
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Year: 2011 PMID： 22077972 PMCID： PMC3213389 DOI： 10.1016/j.ajhg.2011.10.007
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025