ArticleClinical genetics2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- HumaneLife · 2024Article
- Muscarinic control of cardiovascular function in humans: a review of current clinical evidence.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Review
- Expanding theFrontiers in genetics · 2022Article
- Biological evaluation of linalool on the function of blood vessels.Molecular medicine reports · 2021Article
- Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress.International journal of molecular sciences · 2021Review
- The Urothelium: Life in a Liquid Environment.Physiological reviews · 2020Review
- A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.Clinical genetics · 2019Article
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
CHRM3 codes for the M3 muscarinic acetylcholine receptor that is located on the surface of smooth muscle cells of the detrusor, the muscle that effects urinary voiding. Previously, we reported brothers in a family affected by a congenital prune belly-like syndrome with mydriasis due to homozygous CHRM3 frameshift variants. In this study, we describe two sisters with bladders that failed to empty completely and pupils that failed to constrict fully in response to light, who are homozygous for the missense CHRM3 variant c.352G > A; p.(Gly118Arg). Samples were not available for genotyping from their brother, who had a history of multiple urinary tract infections and underwent surgical bladder draining in the first year of life. He died at the age of 6 years. This is the first independent report of biallelic variants in CHRM3 in a family with a rare serious bladder disorder associated with mydriasis and provides important evidence of this association.
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