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

作者：Weber Stefanie^*; Thiele Holger; Mir Sevgi; Toliat Mohammad Reza; Sozeri Betuel; Reutter Heiko; Draaken Markus; Ludwig Michael; Altmueller 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; Nuernberg Peter; Woolf Adrian S

来源：American Journal of Human Genetics, 2011, 89(5): 668-674.

DOI：10.1016/j.ajhg.2011.10.007

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.

• 出版日期2011-11-11