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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.

SUBMITTER: Weber S

PROVIDER: S-EPMC3213389 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature

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

Weber Stefanie S Thiele Holger H Mir Sevgi S Toliat Mohammad Reza MR Sozeri Betül B Reutter Heiko H Draaken Markus M Ludwig Michael M Altmüller Janine J Frommolt Peter P Stuart Helen M HM Ranjzad Parisa P Hanley Neil A NA Jennings Rachel R Newman William G WG Wilcox Duncan T DT Thiel Uwe U Schlingmann Karl Peter KP Beetz Rolf R Hoyer Peter F PF Konrad Martin M Schaefer Franz F Nürnberg Peter P Woolf Adrian S AS

American journal of human genetics 20111101 5

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 devel ...[more]

PMID: 22077972

Dataset Information

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

Publications

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

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