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. ; Weber, Stefanie Thiele, Holger Mir, Sevgi Toliat, Mohammad Reza Sozeri, Betul Reutter, Heiko Draaken, Markus Ludwig, Michael Altmuller, Janine Frommolt, Peter Stuart, Helen M Ranjzad, Parisa Hanley, Neil A Jennings, Rachel Newman, William G Wilcox, Duncan T Thiel, Uwe Schlingmann, Karl Peter Beetz, Rolf Hoyer, Peter F Konrad, Martin Schaefer, Franz Nurnberg, Peter Woolf, Adrian S 088566/Wellcome Trust/United Kingdom Wellcome Trust/United Kingdom Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007.