{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:24:26Z","timestamp":1789691066174,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T00:00:00Z","timestamp":1328140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in <jats:italic>ACTA2<\/jats:italic> (smooth muscle cell\u2014specific isoform of \u03b1\u2010actin) lead to a predisposition to thoracic aortic aneurysms and other vascular diseases. More recently, the <jats:italic>ACTA2<\/jats:italic> R179H mutation has been described in individuals with global smooth muscle dysfunction. We report a patient heterozygous for the mutation in <jats:italic>ACTA2<\/jats:italic> R179H who presented with megacystis at 13 weeks gestational age and, at birth, with prune\u2010belly sequence. He also had deep skin dimples and creases on his palms and soles, a finding not previously described but possibly related to <jats:italic>ACTA2<\/jats:italic>. To our knowledge, this is the first report of the R179H mutation in <jats:italic>ACTA2<\/jats:italic> in a child with prune\u2010belly sequence. We think the R179H mutation in <jats:italic>ACTA2<\/jats:italic> should be included in the differential diagnosis of individuals presenting with the sequence without an identified mechanical obstruction. Furthermore, as <jats:italic>ACTA2<\/jats:italic> R179H has been reported in patients with severe vasculomyopathy and premature death, we recommend that molecular testing for this mutation be considered in fetuses presenting with fetal megacystis with a normal karyotype, particularly if the bladder diameter is 15\u2009mm or more, to allow expectant parents to make an informed decision. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35206","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T19:40:20Z","timestamp":1328211620000},"page":"664-668","source":"Crossref","is-referenced-by-count":58,"title":["R179H mutation in ACTA2 expanding the phenotype to include prune\u2010belly sequence and skin manifestations"],"prefix":"10.1002","volume":"158A","author":[{"given":"J.","family":"Richer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.M.","family":"Milewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Gow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"de Nanassy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Maharajh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Oppenheimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Weiler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"O'Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,2]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00265.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.007"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2008.88"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.81"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cdd687"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33657"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2011.30.6.833"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2010.09.002"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.790"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1981.198"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00868740"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024001-0042-1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35206","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:02:10Z","timestamp":1700568130000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,2]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.35206"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35206","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,2]]}}}