ArticleEuropean journal of human genetics : EJHG2018
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 55 citations in OpenAlex.
- A study based on reverse network pharmacology of kidney stones identified that quercetin targets the myosin light chain kinase/myosin light chain 2 pathway in human renal HK-2 cells.Asian journal of urology · 2026Article
- cTAGE5 is essential for adipogenesis and adipose tissue development.Nature communications · 2025Article
- Cell-surface proteomic profiling identifies CD72 as a regulator of microglial tiling.bioRxiv : the preprint server for biology · 2025Article
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- HEARTSVG: a fast and accurate method for identifying spatially variable genes in large-scale spatial transcriptomics.Nature communications · 2024Article
- 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
- Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.Digestive diseases and sciences · 2023Review
- The Long Noncoding RNA Cardiac Mesoderm Enhancer-Associated Noncoding RNA (Carmn) Is a Critical Regulator of Gastrointestinal Smooth Muscle Contractile Function and Motility.Gastroenterology · 2023Article
- Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.Biomolecules · 2022Review
- Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rareWorld journal of clinical cases · 2022Article
- Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (Intractable & rare diseases research · 2022Review
- 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
- Research progress in myosin light chain 9 in malignant tumors.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021Article
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.American journal of physiology. Gastrointestinal and liver physiology · 2021Review
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival.Journal of pediatric gastroenterology and nutrition · 2021Article
- Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.Molecular genetics & genomic medicine · 2020Article
- Age and Sex-Dependent ADNP Regulation of Muscle Gene Expression Is Correlated with Motor Behavior: Possible Feedback Mechanism with PACAP.International journal of molecular sciences · 2020Article
- Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.Human mutation · 2020Article
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7 authors at 4 institutions in 2 countries.
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Abstract
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disease characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease. In the present article, we described a family with two affected siblings with MMIHS born to consanguineous parents and the molecular investigation performed to define the genetic etiology. Previous whole exome sequencing of the affected child and parents did not identify a candidate gene for the disease in this family, but now we present a reanalysis of the data that led to the identification of a homozygous deletion encompassing the last exon of MYL9 (myosin regulatory light chain 9) in the affected individual. MYL9 gene encodes a regulatory myosin MLC and the phosphorylation of this protein is a crucial step in the contraction process of smooth muscle cell. Despite the absence of human or animal phenotype related to MYL9, a cause-effect relationship between MYL9 and the MMIHS seems biologically plausible. The present study reveals a strong candidate gene for autosomal recessive forms of MMIHS, expanding the molecular basis of this disease and reinforces the myopathic basis of this condition.
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