title: Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
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.
authors.affiliation: Pediatrics II, University Children's Hospital Essen, 45122 Essen, Germany. stefanie.weber@uk.essen.de
authors.forename: Stefanie
authors.initials: S
authors.lastname: Weber
authors.forename: Holger
authors.initials: H
authors.lastname: Thiele
authors.forename: Sevgi
authors.initials: S
authors.lastname: Mir
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Toliat
authors.forename: Betül
authors.initials: B
authors.lastname: Sozeri
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Markus
authors.initials: M
authors.lastname: Draaken
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
authors.forename: Janine
authors.initials: J
authors.lastname: Altmüller
authors.forename: Peter
authors.initials: P
authors.lastname: Frommolt
authors.forename: Helen M
authors.initials: HM
authors.lastname: Stuart
authors.forename: Parisa
authors.initials: P
authors.lastname: Ranjzad
authors.forename: Neil A
authors.initials: NA
authors.lastname: Hanley
authors.forename: Rachel
authors.initials: R
authors.lastname: Jennings
authors.forename: William G
authors.initials: WG
authors.lastname: Newman
authors.forename: Duncan T
authors.initials: DT
authors.lastname: Wilcox
authors.forename: Uwe
authors.initials: U
authors.lastname: Thiel
authors.forename: Karl Peter
authors.initials: KP
authors.lastname: Schlingmann
authors.forename: Rolf
authors.initials: R
authors.lastname: Beetz
authors.forename: Peter F
authors.initials: PF
authors.lastname: Hoyer
authors.forename: Martin
authors.initials: M
authors.lastname: Konrad
authors.forename: Franz
authors.initials: F
authors.lastname: Schaefer
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Adrian S
authors.initials: AS
authors.lastname: Woolf
mesh_terms: D000818:Animals; D001483:Base Sequence; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D007150:Immunohistochemistry; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D051379:Mice; D018345:Mice, Knockout; D008958:Models, Molecular; D011535:Prune Belly Syndrome / Q000235:genetics* / Q000473:pathology; D043587:Receptor, Muscarinic M3 / Q000172:deficiency / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D012737:Sex Factors; D001743:Urinary Bladder / Q000196:embryology / Q000473:pathology; D001748:Urinary Bladder Neck Obstruction / Q000235:genetics / Q000473:pathology
chemical_list: D043587:Receptor, Muscarinic M3
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