{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:33:11Z","timestamp":1788305591958,"version":"build-2803163510"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,17]],"date-time":"2013-10-17T00:00:00Z","timestamp":1381968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"SHORT<\/jats:styled-content> syndrome (OMIM<\/jats:styled-content> 269880) is a rare autosomal\u2010dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (Rieger anomaly, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and facial dysmorphic signs. Heterozygous mutations in PIK3R1<\/jats:styled-content><\/jats:italic> were recently identified in 14 families with SHORT<\/jats:styled-content> syndrome. Eight of these families had a recurrent missense mutation (c.1945C<\/jats:styled-content>>T; p.Arg649Trp<\/jats:styled-content>). We report on two unrelated patients with typical clinical features of SHORT<\/jats:styled-content> syndrome and additional problems such as pulmonary stenosis and ectopic kidney. Analysis of PIK3R1<\/jats:styled-content><\/jats:italic> revealed the mutation c.1945C<\/jats:styled-content>>T; p.Arg649Trp<\/jats:styled-content> de novo<\/jats:italic> in both patients. These two patients not only provide additional evidence that PIK3R1<\/jats:styled-content><\/jats:italic> mutations cause SHORT<\/jats:styled-content> syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C<\/jats:styled-content>>T; p.Arg649Trp<\/jats:styled-content> is a hotspot mutation in this gene.<\/jats:p>","DOI":"10.1111\/cge.12263","type":"journal-article","created":{"date-parts":[[2013,8,26]],"date-time":"2013-08-26T13:44:44Z","timestamp":1377524684000},"page":"292-294","source":"Crossref","is-referenced-by-count":36,"title":["PIK3R1<\/scp><\/i> mutations in SHORT<\/scp> syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"C.","family":"Schroeder","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bonin","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"D\u00f6bler\u2010Neumann","sequence":"additional","affiliation":[{"name":"University Children's Hospital University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wieser","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Heidelberg Heidelberg Germany"},{"name":"Department of Pediatrics Paracelsus Medical University Salzburg Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Moog","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Tzschach","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,17]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"39","article-title":"Malformation syndromes. 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