{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T21:58:03Z","timestamp":1773439083963,"version":"3.50.1"},"reference-count":34,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; We identified a novel heterozygous de novo missense variant in &lt;i&gt;ACTG2&lt;\/i&gt; c.770G&gt;A (p.Arg257His) encoding &amp;#947;-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents. Two additional de novo missense variants (p.Arg257Cys and p.Arg178His) in ACTG2 were identified in 2 additional MMHIS patients. All of our patients had evidence of fetal megacystis and a normal or slightly increased amniotic fluid volume. Additional findings included bilateral renal hydronephrosis, an enlarged fetal stomach, and transient dilated bowel loops. &lt;i&gt;ACTG2&lt;\/i&gt; immunostaining of the intestinal tissue showed an altered muscularis propria, a markedly thinned longitudinal muscle layer, and a reduced amount and abnormal distribution of ACTG2. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Our study demonstrates that de novo mutations in &lt;i&gt;ACTG2&lt;\/i&gt; are a cause of fetal megacystis in MMIHS and that gonadal mosaicism may be present in a subset of cases. These findings have implications for the counseling of families with a diagnosis of fetal megacystis with a preserved amniotic fluid volume and associated gastrointestinal findings.<\/jats:p>","DOI":"10.1159\/000381638","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T23:21:04Z","timestamp":1431991264000},"page":"296-306","source":"Crossref","is-referenced-by-count":53,"title":["New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding &amp;#947;-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)"],"prefix":"10.1159","volume":"38","author":[{"given":"Lea","family":"Tuzovic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sha","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9124-390X","authenticated-orcid":false,"given":"Russell 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