ArticlePLoS genetics2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.Pediatric surgery international · 2019Pooled it
- Bisphosphonate-Related Pathological Femoral Fracture in a Child with ACTG2-Related Intestinal Failure and Metabolic Bone Disease: A Case Report.Journal of orthopaedic case reports · 2026Article
- Multilayered regulation of cytoskeletal protein abundance: autoregulatory mechanisms of actin and tubulin.Experimental & molecular medicine · 2026Review
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.Clinical journal of gastroenterology · 2024Review
- Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.Science advances · 2024Article
- Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.Molecular genetics and genomics : MGG · 2024Article
- PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.Nature communications · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.Digestive diseases and sciences · 2023Review
- Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.Journal of rare diseases (Berlin, Germany) · 2023Article
- Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction.Gastroenterology report · 2023Article
- MICAL-mediated oxidation of actin and its effects on cytoskeletal and cellular dynamics.Frontiers in cell and developmental biology · 2023Review
- Clinical variant interpretation and biologically relevant reference transcripts.NPJ genomic medicine · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (Intractable & rare diseases research · 2022Review
- Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.Journal of neurogastroenterology and motility · 2022Article
- Article
- MYL9 deficiency is neonatal lethal in mice due to abnormalities in the lung and the muscularis propria of the bladder and intestine.PloS one · 2022Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 6 institutions in 3 countries.
Funding
Abstract
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to MMIHS. We used whole-exome sequencing for gene discovery followed by targeted Sanger sequencing in a cohort of patients with MMIHS and intestinal pseudo-obstruction. We identified heterozygous ACTG2 missense variants in 15 unrelated subjects, ten being apparent de novo mutations. Ten unique variants were detected, of which six affected CpG dinucleotides and resulted in missense mutations at arginine residues, perhaps related to biased usage of CpG containing codons within actin genes. We also found some of the same heterozygous mutations that we observed as apparent de novo mutations in MMIHS segregating in families with intestinal pseudo-obstruction, suggesting that ACTG2 is responsible for a spectrum of smooth muscle disease. ACTG2 encodes γ2 enteric actin and is the first gene to be clearly associated with MMIHS, suggesting an important role for contractile proteins in enteric smooth muscle disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.