Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
paper
Cited
Public
Unavailable
- 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
- Year
- 2011
- Journal
- American journal of human genetics
- PMID
- 22077972
- DOI
- 10.1016/j.ajhg.2011.10.007
- PMCID
- PMC3213389
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.
No figures extracted from this document.
No chunks — full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| A regulatory variant of CHRM3 is associated with cannabis-induced hallucinations in European Americans. | 2019 | 31740666 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| A Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate. | Grömping E et al. | — | 2026 | → |
| Genomic testing in pediatric urology: Implications for diagnosis and management. | Berezowska A et al. | — | 2026 | → |
| The biology of congenital urinary bladder outflow obstruction. | Roberts NA et al. | — | 2026 | → |
| Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and <i>de novo SETBP1</i> mutation. | Beaman GM et al. | — | 2025 | → |
| Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. | Liu TY et al. | — | 2025 | → |
| Modulating vertebrate physiology by genomic fine-tuning of GPCR functions. | Schöneberg T | — | 2025 | → |
| Prune-belly Syndrome: An Update. | Conegundes AF et al. | — | 2025 | → |
| Human <i>HPSE2</i> gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome. | Lopes FM et al. | — | 2024 | → |
| Muscarinic control of cardiovascular function in humans: a review of current clinical evidence. | Palma JA | — | 2024 | → |
| PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome. | Amado NG et al. | — | 2024 | → |
| Dental treatment of patients with prune belly syndrome. | Quilici G et al. | — | 2023 | → |
| Human <i>HPSE2</i> gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome | Lopes FM et al. | — | 2023 | — |
| Intracellular signaling pathways of muscarinic acetylcholine receptor-mediated detrusor muscle contractions. | Balla H et al. | — | 2023 | → |
| Lower Urinary Tract Obstruction in Newborns. | Flores-Torres J et al. | — | 2023 | → |
| Recessive CHRM5 variant as a potential cause of neurogenic bladder. | Schneider S et al. | — | 2023 | → |
| The genetics and pathogenesis of CAKUT. | Kolvenbach CM et al. | — | 2023 | → |
| Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. | Wu CW et al. | — | 2022 | → |
| Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. | Connaughton DM et al. | — | 2022 | → |
| Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves. | Chan MMY et al. | — | 2022 | → |
| Exocrine gland structure-function relationships. | Khan S et al. | — | 2022 | → |
| The genetic basis of congenital anomalies of the kidney and urinary tract. | Kagan M et al. | — | 2022 | → |
| Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches. | Schöneberg T et al. | — | 2021 | → |
| Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions. | Pakkasjärvi N et al. | — | 2021 | → |
| Regulation of the Muscarinic M<sub>3</sub> Receptor by Myocardin-Related Transcription Factors. | Liu L et al. | — | 2021 | → |
| Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. | Billon C et al. | — | 2020 | → |
| Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. | Iqbal NS et al. | — | 2020 | → |
| The Urothelium: Life in a Liquid Environment. | Dalghi MG et al. | — | 2020 | → |
| 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. | Beaman GM et al. | — | 2019 | → |
| A homozygous missense variant in CHRM3 associated with familial urinary bladder disease. | Beaman GM et al. | — | 2019 | → |
| A regulatory variant of CHRM3 is associated with cannabis-induced hallucinations in European Americans. | Cheng Z et al. | — | 2019 | → |
| CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. | Mann N et al. | — | 2019 | → |
| Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies. | Woolf AS et al. | — | 2019 | → |
| Developmental pathology of congenital kidney and urinary tract anomalies. | Jain S et al. | — | 2019 | → |
| Impact of next generation sequencing on our understanding of CAKUT. | Nigam A et al. | — | 2019 | → |
| Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. | Houweling AC et al. | — | 2019 | → |
| Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. | Roberts NA et al. | — | 2019 | → |
| Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients. | Wong DG et al. | — | 2019 | → |
| Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. | Kolvenbach CM et al. | — | 2019 | → |
| Copy number variations in a population with prune belly syndrome. | Iqbal NS et al. | — | 2018 | → |
| Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network. | Urh K et al. | — | 2018 | → |
| Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. | van der Ven AT et al. | — | 2018 | → |
| Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. | Yalcinkaya F et al. | — | 2018 | → |
| Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. | van der Ven AT et al. | — | 2018 | → |
| Exploring the genetic basis of early-onset chronic kidney disease. | Vivante A et al. | — | 2016 | → |
| From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease. | Roberts NA et al. | — | 2016 | → |
| Genetics of Vesicoureteral Reflux. | Nino F et al. | — | 2016 | → |
| Systemic Absorption of Cyclopentolate and Adverse Events After Retinopathy of Prematurity Exams. | Mitchell A et al. | — | 2016 | → |
| The Functional Haplotypes of <i>CHRM3</i> Modulate mRNA Expression and Associate with Bladder Cancer among a Chinese Han Population in Kaohsiung City. | Wang CT et al. | — | 2016 | → |
| Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. | Moreno CA et al. | — | 2016 | → |
| Eccrine sweat gland development and sweat secretion. | Cui CY et al. | — | 2015 | → |
| Genetic, environmental, and epigenetic factors involved in CAKUT. | Nicolaou N et al. | — | 2015 | → |
| HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction. | Bulum B et al. | — | 2015 | → |
| (PS)2: protein structure prediction server version 3.0. | Huang TT et al. | — | 2015 | → |
| Urinary tract effects of HPSE2 mutations. | Stuart HM et al. | — | 2015 | → |
| Abdominal radiograph with intravesical air and possible small bowel atresia. | Stewart MS et al. | — | 2014 | → |
| Fetal therapy for the treatment of congenital bladder neck obstruction. | Kilby MD et al. | — | 2014 | → |
| Genetics of human congenital urinary bladder disease. | Woolf AS et al. | — | 2014 | → |
| Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. | Roberts NA et al. | — | 2014 | → |
| Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. | Woolf AS et al. | — | 2014 | → |
| Lower urinary tract development and disease. | Rasouly HM et al. | — | 2013 | → |
| LRIG2 mutations cause urofacial syndrome. | Stuart HM et al. | — | 2013 | → |
| Novel genetic aspects of congenital anomalies of kidney and urinary tract. | Weber S | — | 2012 | → |