{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:11:16Z","timestamp":1761718276329},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We report on a newborn boy with a bilateral cleft of the primary palate, duplicated triphalangeal thumbs, and a patent foramen ovale. During childhood he had moderate developmental delay. Brain MRI at 4 years was normal. The concurrence of non\u2010syndromic clefts of the lip\/palate (CL\/P) and duplicated thumbs with triphalangeal component has, to our knowledge, not been reported so far. In our case, array\u2010CGH analysis documented two de novo deletions (\u223c1.2\u2009Mb and \u223c400\u2009Kb) of the long arm of chromosome 4, containing four genes: platelet\u2010derived growth factor C (<jats:italic>PDGFC<\/jats:italic>), glycine receptor beta subunit (<jats:italic>GLRB<\/jats:italic>), glutamate receptor ionotropic AMPA2 (<jats:italic>GRIA2<\/jats:italic>), and F\u2010box protein 8 gene (<jats:italic>FBXO8<\/jats:italic>). <jats:italic>PDGFC<\/jats:italic> codes for a mesenchymal cell growth factor already known to be associated with clefts of the lip. <jats:italic>Pdgfc<\/jats:italic><jats:sup>\u2212\/\u2212<\/jats:sup> mice have skeletal anomalies, and facial schisis resembling human cleft\/lip palate. <jats:italic>GRIA2<\/jats:italic> codes for a ligand\u2010activated cation channel that mediates the fast component of postsynaptic excitatory currents in neurons, and may be linked to cognitive dysfunction. <jats:italic>FBXO8<\/jats:italic>, a gene of unknown function, is a member of the F\u2010box gene family, among which <jats:italic>FBXW4<\/jats:italic>, within the minimal duplicated region associated with human split\u2010hand\/foot malformation type 3 (SHFM type 3). The presence of overlapping deletions in patients who do not share the same phenotype of our case suggests incomplete penetrance, and a possible effect of modifier genetic factors. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36146","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:03Z","timestamp":1376674263000},"page":"2656-2662","source":"Crossref","is-referenced-by-count":10,"title":["Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two <i>De novo<\/i> deletions of HSA 4q32 and 4q34 involving <i>PDGFC<\/i>, <i>GRIA<\/i><i>2<\/i>, and <i>FBXO<\/i><i>8<\/i> genes"],"prefix":"10.1002","volume":"161","author":[{"given":"Alessandro","family":"Calcia","sequence":"first","affiliation":[{"name":"Department of Medical Sciences University of Torino Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Gai","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Torino Torino Italy"},{"name":"S.C.d.U. Medical Genetics A.O. Citt\u00e0 della Salute e della Scienza Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences University of Torino Torino Italy"},{"name":"S.C.d.U. Medical Genetics A.O. Citt\u00e0 della Salute e della Scienza Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavia","family":"Talarico","sequence":"additional","affiliation":[{"name":"S.C.d.U. Medical Genetics A.O. Citt\u00e0 della Salute e della Scienza Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria G.","family":"Naretto","sequence":"additional","affiliation":[{"name":"S.C.d.U. Medical Genetics A.O. 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