{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:35:58Z","timestamp":1771493758021,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T00:00:00Z","timestamp":1490745600000},"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":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre\/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X\u2010linked recessive and caused by deletions, duplications, and point mutations in <jats:italic>GPC3<\/jats:italic>, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division. Here, we report on a family with three affected cousins who show variable clinical signs of SGBS and ID. Initial microarray\u2010CGH revealed a deletion of approximately 30\u201350\u2009kb that includes at least one exon of <jats:italic>GPC3<\/jats:italic>. By subsequent Sanger sequencing of genomic DNA we could map the chromosomal break points to define a deletion size of 43,617\u2009bp including exons 5 and 6 of the <jats:italic>GPC3<\/jats:italic> gene. RT\u2010PCR analysis on RNA derived from whole blood could further confirm the deletion of both exons on transcript level. This loss of two exons results in a frameshift and a premature stop of translation. Based on our results we have established a breakpoint spanning PCR that could identify the mutation in the mothers and grandmother of the patients. Thus, we provided a molecular test that allows accurate genetic counselling and prenatal diagnosis for this family.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38188","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T13:49:15Z","timestamp":1490795355000},"page":"1400-1405","source":"Crossref","is-referenced-by-count":8,"title":["Molecular analysis of a novel intragenic deletion in <i>GPC3<\/i> in three cousins with Simpson\u2013Golabi\u2013Behmel syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5942-2924","authenticated-orcid":false,"given":"Julia","family":"Schmidt","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronja","family":"Hollstein","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Funktionelle Genetik am Institut f\u00fcr Humangenetik L\u00fcbeck Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[{"name":"Sektion f\u00fcr Funktionelle Genetik am Institut f\u00fcr Humangenetik L\u00fcbeck Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4t zu L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.03.006"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.7.18.6672"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_8_7_1","first-page":"1333","article-title":"Expression pattern of glypican\u20103 (GPC3) during human embryonic and fetal development","volume":"23","author":"Iglesias B. 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