Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome

Authors:	Weber Stefanie Thiele Holger Mir Sevgi Toliat Mohammad Reza Sozeri Betül Reutter Heiko Draaken Markus Ludwig Michael Altmüller 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 Nürnberg Peter Woolf Adrian S

Affiliation:	¹Pediatrics II, University Children's Hospital Essen, 45122 Essen, Germany;²Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;³University Children's Hospital Izmir, 35030 Izmir, Turkey;⁴Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany;⁵Department of Neonatology, Children's Hospital, University of Bonn, 53127 Bonn, Germany;⁶Department of Genomics, Life and Brain Center, University of Bonn, 53127 Bonn, Germany;⁷Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany;⁸Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany;⁹Developmental Biomedicine Research Group, School of Biomedicine, Manchester Academic Health Sciences Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, M13 9PT Manchester, United Kingdom;¹⁰University of Manchester, Medical Genetics, St Mary's Hospital, M13 9PT Manchester, United Kingdom;¹¹The Children's Hospital Aurora, CO 80045, USA;¹²University Children's Hospital Münster, 48149 Münster, Germany;¹³University Children's Hospital Mainz, 55131 Mainz, Germany;¹⁴Pediatric Nephrology, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany;¹⁵Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany;¹⁶Pediatric Hospital of Munich-Schwabing, 81664 Munich, Germany

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.

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