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

Stefanie Weber; Holger Thiele; Sevgi Mir; Mohammad Reza Toliat; Betül Sozeri; Heiko Reutter; Markus Draaken; Michael Ludwig; Janine Altmüller; Peter Frommolt; Helen M. Stuart; Parisa Ranjzad; Neil A. Hanley; Rachel Jennings; William G. Newman; Duncan T. Wilcox; Uwe Thiel; Karl Peter Schlingmann; Rolf Beetz; Peter F. Hoyer; Martin Konrad; Franz Schaefer; Peter Nürnberg; Adrian S. Woolf

doi:10.1016/j.ajhg.2011.10.007

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

Stefanie Weber, Holger Thiele, Sevgi Mir, Mohammad Reza Toliat, Betül Sozeri, Heiko Reutter, Markus Draaken, Michael Ludwig, Janine Altmüller, Peter Frommolt, Helen M. Stuart, Parisa Ranjzad, Neil A. Hanley, Rachel Jennings, William G. Newman, Duncan T. Wilcox, Uwe Thiel, Karl Peter Schlingmann, Rolf Beetz, Peter F. HoyerMartin Konrad, Franz Schaefer, Peter Nürnberg, Adrian S. Woolf

Research output: Contribution to journal › Article › peer-review

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. © 2011 The American Society of Human Genetics.

Original language	English
Pages (from-to)	668-674
Number of pages	6
Journal	American Journal of Human Genetics
Volume	89
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2011.10.007
Publication status	Published - 11 Nov 2011

Keywords

Animals
Base Sequence
Consanguinity
Female
Frameshift Mutation/genetics
Humans
INDEL Mutation/genetics
Immunohistochemistry
Male
Metabolism, Inborn Errors/*genetics
Mice
Mice, Knockout
Models, Molecular
Prune Belly Syndrome/*genetics/pathology
*Receptor, Muscarinic M3/deficiency/genetics
Sequence Homology, Nucleic Acid
Sex Factors
*Urinary Bladder/embryology/pathology
Urinary Bladder Neck Obstruction/genetics/pathology

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10.1016/j.ajhg.2011.10.007

http://www.ncbi.nlm.nih.gov/pubmed/22077972

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Weber, S., Thiele, H., Mir, S., Toliat, M. R., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmüller, J., Frommolt, P., Stuart, H. M., Ranjzad, P., Hanley, N. A., Jennings, R., Newman, W. G., Wilcox, D. T., Thiel, U., Schlingmann, K. P., Beetz, R., ... Woolf, A. S. (2011). Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome. American Journal of Human Genetics, 89(5), 668-674. https://doi.org/10.1016/j.ajhg.2011.10.007

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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. {\textcopyright} 2011 The American Society of Human Genetics.",

keywords = "Animals, Base Sequence, Consanguinity, Female, Frameshift Mutation/genetics, Humans, INDEL Mutation/genetics, Immunohistochemistry, Male, Metabolism, Inborn Errors/*genetics, Mice, Mice, Knockout, Models, Molecular, Prune Belly Syndrome/*genetics/pathology, *Receptor, Muscarinic M3/deficiency/genetics, Sequence Homology, Nucleic Acid, Sex Factors, *Urinary Bladder/embryology/pathology, Urinary Bladder Neck Obstruction/genetics/pathology",

author = "Stefanie Weber and Holger Thiele and Sevgi Mir and Toliat, {Mohammad Reza} and Bet{\"u}l Sozeri and Heiko Reutter and Markus Draaken and Michael Ludwig and Janine Altm{\"u}ller and Peter Frommolt and Stuart, {Helen M.} and Parisa Ranjzad and Hanley, {Neil A.} and Rachel Jennings and Newman, {William G.} and Wilcox, {Duncan T.} and Uwe Thiel and Schlingmann, {Karl Peter} and Rolf Beetz and Hoyer, {Peter F.} and Martin Konrad and Franz Schaefer and Peter N{\"u}rnberg and Woolf, {Adrian S.}",

year = "2011",

month = nov,

day = "11",

doi = "10.1016/j.ajhg.2011.10.007",

language = "English",

volume = "89",

pages = "668--674",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Weber, S, Thiele, H, Mir, S, Toliat, MR, Sozeri, B, Reutter, H, Draaken, M, Ludwig, M, Altmüller, J, Frommolt, P, Stuart, HM , Ranjzad, P , Hanley, NA, Jennings, R, Newman, WG, Wilcox, DT, Thiel, U, Schlingmann, KP, Beetz, R, Hoyer, PF, Konrad, M, Schaefer, F, Nürnberg, P & Woolf, AS 2011, 'Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome', American Journal of Human Genetics, vol. 89, no. 5, pp. 668-674. https://doi.org/10.1016/j.ajhg.2011.10.007

TY - JOUR

T1 - Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome

AU - Weber, Stefanie

AU - Thiele, Holger

AU - Mir, Sevgi

AU - Toliat, Mohammad Reza

AU - Sozeri, Betül

AU - Reutter, Heiko

AU - Draaken, Markus

AU - Ludwig, Michael

AU - Altmüller, Janine

AU - Frommolt, Peter

AU - Stuart, Helen M.

AU - Ranjzad, Parisa

AU - Hanley, Neil A.

AU - Jennings, Rachel

AU - Newman, William G.

AU - Wilcox, Duncan T.

AU - Thiel, Uwe

AU - Schlingmann, Karl Peter

AU - Beetz, Rolf

AU - Hoyer, Peter F.

AU - Konrad, Martin

AU - Schaefer, Franz

AU - Nürnberg, Peter

AU - Woolf, Adrian S.

PY - 2011/11/11

Y1 - 2011/11/11

N2 - 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.

AB - 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.

KW - Animals

KW - Base Sequence

KW - Consanguinity

KW - Female

KW - Frameshift Mutation/genetics

KW - Humans

KW - INDEL Mutation/genetics

KW - Immunohistochemistry

KW - Male

KW - Metabolism, Inborn Errors/genetics

KW - Mice

KW - Mice, Knockout

KW - Models, Molecular

KW - Prune Belly Syndrome/genetics/pathology

KW - Receptor, Muscarinic M3/deficiency/genetics

KW - Sequence Homology, Nucleic Acid

KW - Sex Factors

KW - Urinary Bladder/embryology/pathology

KW - Urinary Bladder Neck Obstruction/genetics/pathology

U2 - 10.1016/j.ajhg.2011.10.007

DO - 10.1016/j.ajhg.2011.10.007

M3 - Article

C2 - 22077972

SN - 0002-9297

VL - 89

SP - 668

EP - 674

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

Abstract

Keywords

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