{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T23:01:11Z","timestamp":1791241271794,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome is a rare overgrowth syndrome caused by the <jats:italic>GPC3<\/jats:italic> mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre\/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Although this syndrome is known to be associated with a risk for embryonal tumors, similar to other overgrowth syndromes, the pathogenetic basis of this mode of tumorigenesis remains largely unknown. Here, we report a boy with Simpson\u2010Golabi\u2013Behmel syndrome who had a germline loss\u2010of function mutation in <jats:italic>GPC3<\/jats:italic>. At 9 months of age, he developed hepatoblastoma. A comparison of exome analysis results for the germline genome and for the tumor genome revealed a somatic mutation, p.Ile35Ser, within the degradation targeting box of \u03b2\u2010catenin. The same somatic mutation in <jats:italic>CTNNB1<\/jats:italic> has been repeatedly reported in hepatoblastoma and other cancers. This finding suggested that the <jats:italic>CTNNB1<\/jats:italic> mutation in the tumor tissue represents a driver mutation and that both the <jats:italic>GPC3<\/jats:italic> and the <jats:italic>CTNNB1<\/jats:italic> mutations contributed to tumorigenesis in a clearly defined sequential manner in the propositus. The current observation of a somatic <jats:italic>CTNNB1<\/jats:italic> mutation in a hepatoblastoma from a patient with a germline <jats:italic>GPC3<\/jats:italic> mutation supports the notion that the mutation in <jats:italic>GPC3<\/jats:italic> may influence one of the initial steps in tumorigenesis and the progression to hepatoblastoma. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36364","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:43:18Z","timestamp":1390520598000},"page":"993-997","source":"Crossref","is-referenced-by-count":30,"title":["Somatic <i>CTNNB1<\/i> mutation in hepatoblastoma from a patient with Simpson\u2013Golabi\u2013Behmel syndrome and germline <i>GPC3<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Rika","family":"Kosaki","sequence":"first","affiliation":[{"name":"Division of Medical Genetics National Center for Child Health and Development Tokyo 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