Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome

Research output: Contribution to journalArticle

  • External authors:
  • Stefanie Weber
  • Holger Thiele
  • Sevgi Mir
  • Mohammad Reza Toliat
  • Betül Sozeri
  • Heiko Reutter
  • Markus Draaken
  • Michael Ludwig
  • Janine Altmüller
  • Peter Frommolt
  • Rachel Jennings
  • Duncan T. Wilcox
  • Uwe Thiel
  • Karl Peter Schlingmann
  • Rolf Beetz
  • Peter F. Hoyer
  • Martin Konrad
  • Franz Schaefer
  • Peter Nürnberg


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. © 2011 The American Society of Human Genetics.

Bibliographical metadata

Original languageEnglish
Pages (from-to)668-674
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number5
Publication statusPublished - 11 Nov 2011