{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:14Z","timestamp":1790677334929,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T00:00:00Z","timestamp":1245110400000},"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":[[2009,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rubinstein\u2013Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is characterized by mental retardation, distinctive facial features, broad and often angulated thumbs and great toes, short stature, and growth retardation. <jats:italic>CREBBP<\/jats:italic> and <jats:italic>EP300<\/jats:italic> are the only genes currently known to be associated with RSTS. Mutations in <jats:italic>CREBBP<\/jats:italic> and <jats:italic>EP300<\/jats:italic> were identified in approximately 50% and 3% of RSTS patients, respectively. To date, most of <jats:italic>CREBBP<\/jats:italic> mutations were de novo mutations and the recurrence rate in a family was low. Families with more than one affected child are extremely rare. In this study, we have shown a family with two affected siblings; the same mutation was found in both siblings. However, the mutation was not found in the blood or saliva DNA samples from the parents, suggesting the mechanism of germ\u2010line mosaicism. In addition, we identified low\u2010level mosaicism of a <jats:italic>CREBBP<\/jats:italic> mutation in the father from a second family with one affected child. Among the three analyzed tissue samples from the father, low\u2010level mosaicism is present only significantly in the blood sample. We hypothesize mutations in <jats:italic>CREBBP<\/jats:italic> in these two families occur in the postzygotic stage in one of the parents (one generation ahead) of the affected individual. Additional family studies are required to determine how common somatic and\/or gonadal mosaicism is present in RSTS patients. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32948","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T22:47:45Z","timestamp":1245192465000},"page":"1463-1467","source":"Crossref","is-referenced-by-count":38,"title":["Somatic and germ\u2010line mosaicism in Rubinstein\u2013Taybi syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Pei\u2010Wen","family":"Chiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Spector","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Chun\u2010Hui","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,6,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1331-y"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-77"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<29::AID-AJMG6>3.0.CO;2-Z"},{"key":"e_1_2_5_5_1","first-page":"249","article-title":"Rubinstein\u2010Taybi syndrome caused by submicroscopic deletions within 16p13.3","volume":"52","author":"Breuning MH","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.415"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201594"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370610"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/376348a0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.3.168"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399407000415"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/429130"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20022"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2403353"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32424"},{"key":"e_1_2_5_16_1","unstructured":"StevensCA.2007.Rubinstein\u2010Taybi syndrome: In GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright University of Washington Seattle. 1997\u20132007. Available athttp:\/\/www.genetests.org."},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370605"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10174"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10009"}],"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.32948","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32948","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T19:45:04Z","timestamp":1697053504000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6,16]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["10.1002\/ajmg.a.32948"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32948","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6,16]]}}}