{"title":"<i>ACTG2</i>-Related Visceral Myopathy: Case Reports with Phenotypic Variations and Review of the Previously Published Cases.","authors":"Eva-Liina Süüden, Eliisa Appelberg, Mari-Anne Vals, Kärt Simre, Tiia Reimand, Kristiina Rull","doi":"10.1080/15513815.2025.2543723","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> <i>ACTG2</i> (smooth muscle actin γ-2) is a gene associated with smooth muscle function. <b>Introduction:</b> Variants in this gene can lead to visceral myopathy (VM), which is a spectrum of various disorders affecting smooth muscle in different parts of the body. There is gap in the literature regarding understanding the full scope of <i>ACTG2</i>-related VM. <b>Patients and methods:</b> Here we present the clinical and molecular investigation of three patients with visceral smooth muscle diseases carrying pathogenetic variants in the <i>ACTG2</i> gene. <b>Discussion and conclusion:</b> The severity of the disease varies in great extent, even among monochorionic twins sharing same mutation and intrauterine environment, suggesting that second-site factors are likely to impact disease manifestations.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"510-519"},"PeriodicalIF":0.6000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2543723","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/17 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background:ACTG2 (smooth muscle actin γ-2) is a gene associated with smooth muscle function. Introduction: Variants in this gene can lead to visceral myopathy (VM), which is a spectrum of various disorders affecting smooth muscle in different parts of the body. There is gap in the literature regarding understanding the full scope of ACTG2-related VM. Patients and methods: Here we present the clinical and molecular investigation of three patients with visceral smooth muscle diseases carrying pathogenetic variants in the ACTG2 gene. Discussion and conclusion: The severity of the disease varies in great extent, even among monochorionic twins sharing same mutation and intrauterine environment, suggesting that second-site factors are likely to impact disease manifestations.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
