{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T22:15:29Z","timestamp":1772230529658,"version":"3.50.1"},"reference-count":7,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2012]]},"abstract":"<jats:p>MOTA syndrome, the acronym for Manitoba-oculo-tricho-anal syndrome (OMIM 248450), is a distinct autosomal recessive multiple malformation syndrome caused by mutations in the &lt;i&gt;FREM1&lt;\/i&gt; gene (OMIM 608944). Eight patients with MOTA syndrome and a pathogenic &lt;i&gt;FREM1&lt;\/i&gt; mutation have previously been documented. We report on a new male patient, 3.5 months old, with MOTA syndrome, who presented with the following features: bilateral incomplete cryptophthalmos with a completely fused, ill-defined upper eyelid and a keratinized cornea, hypertelorism, a broad tip of the nose, a circle-shaped whirl of hair on the forehead, and a low anorectal malformation, which could be corrected on day 2 of life without a colostomy. In expansion to the previously reported phenotype of MOTA syndrome, the patient showed characteristic features reported in patients with Fraser syndrome, including dysplastic ears, cutaneous syndactyly 3\/4 of the hands and syndactyly 2\/3 of the right foot. Molecular analysis of &lt;i&gt;FREM1&lt;\/i&gt; identified compound heterozygosity for a new frameshift deletion in exon 24 (c.4629delC, p.F1544SfsX62) and a previously reported missense mutation in exon 21 (c.3971T&gt;G, p.L1324R). This report further extends the phenotype of MOTA syndrome and underscores the overlapping clinical spectrum of FRAS-FREM complex diseases.<\/jats:p>","DOI":"10.1159\/000341501","type":"journal-article","created":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T08:20:05Z","timestamp":1343204405000},"page":"136-139","source":"Crossref","is-referenced-by-count":13,"title":["MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features"],"prefix":"10.1159","volume":"3","author":[{"given":"D.","family":"Mitter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Schanze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Sterker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,7,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.08.010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.39.9.623"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2011.089631"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31951"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32440"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pgen.1002278"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmedgenet-2011-100590"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/341501","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/341501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:39:08Z","timestamp":1745433548000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000341501"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,9,1]]},"published-print":{"date-parts":[[2012,9,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000341501","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}