{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:11:45Z","timestamp":1791274305174,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T00:00:00Z","timestamp":1320278400000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, <jats:italic>PYCR1<\/jats:italic> mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis in this patient widened the range of symptoms that have been noted in DBS. Mutation analysis of <jats:italic>PYCR1<\/jats:italic> revealed compound heterozygous <jats:italic>PYCR1<\/jats:italic> mutations, including a p.P115fsX7 null mutation allele and a second allele with two missense mutations in <jats:italic>cis<\/jats:italic>: p.G248E and p.G297R. The effect of mutation results in a reduction of <jats:italic>PYCR1<\/jats:italic> mRNA expression and PYCR1 protein expression in skin fibroblasts from the patient. The findings presented here suggest a mutation screening of <jats:italic>PYCR1<\/jats:italic> and cardiovascular survey in patients with DBS. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34326","type":"journal-article","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T21:12:08Z","timestamp":1320354728000},"page":"3095-3099","source":"Crossref","is-referenced-by-count":28,"title":["Compound heterozygous mutations in <i>PYCR1<\/i> further expand the phenotypic spectrum of De Barsy syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Dar\u2010Shong","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jui\u2010Hsing","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsuan\u2010Liang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin\u2010Hung","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun\u2010Yan","family":"Yeung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Che\u2010Sheng","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chyong\u2010Hsin","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming\u2010Fu","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih\u2010Kuang","family":"Chuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Wen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsu\u2010Yen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan\u2010Ren","family":"Jian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zon\u2010Darr","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan\u2010Pei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32996"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21462"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701211"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31980"},{"key":"e_1_2_6_6_1","first-page":"305","article-title":"Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. 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