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Known disease genes include <jats:italic>CCBE1<\/jats:italic>, <jats:italic>FAT4<\/jats:italic>, and <jats:italic>ADAMTS3<\/jats:italic>. In a patient with clinically diagnosed Hennekam syndrome but without mutations or copy\u2010number changes in the three known disease genes, we identified a homozygous single\u2010exon deletion affecting <jats:italic>FBXL7<\/jats:italic>. Specifically, exon 3, which encodes the F\u2010box domain and several leucine\u2010rich repeats of FBXL7, is eliminated. Our analyses of databases representing &gt;100,000 control individuals failed to identify biallelic loss\u2010of\u2010function variants in <jats:italic>FBXL7<\/jats:italic>. Published studies in <jats:italic>Drosophila<\/jats:italic> indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences. These data suggest that <jats:italic>FBXL7<\/jats:italic> may be the fourth gene for Hennekam syndrome, acting via a shared pathway with <jats:italic>FAT4<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.61392","type":"journal-article","created":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T14:10:37Z","timestamp":1571667037000},"page":"189-194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Biallelic mutation of <i>FBXL7<\/i> suggests a novel form of Hennekam syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9528-252X","authenticated-orcid":false,"given":"Philip M.","family":"Boone","sequence":"first","affiliation":[{"name":"Harvard Genetics Training Program  Boston Massachusetts"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts"},{"name":"Center for Genomic Medicine Massachusetts General Hospital  Boston Massachusetts"},{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts"},{"name":"Program in Medical and Population Genetics and Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT  Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Paterson","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience University of Queensland  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiana","family":"Mohajeri","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Massachusetts General Hospital  Boston Massachusetts"},{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts"},{"name":"Program in Medical and Population Genetics and Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT  Cambridge Massachusetts"},{"name":"PhD Program in Biological and Biomedical Sciences Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmiao","family":"Zhu","sequence":"additional","affiliation":[{"name":"Baylor Genetics  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casie A.","family":"Genetti","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek J. C.","family":"Tai","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Massachusetts General Hospital  Boston Massachusetts"},{"name":"Department of Neurology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts"},{"name":"Program in Medical and Population Genetics and Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT  Cambridge Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeharika","family":"Nori","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts"},{"name":"The Manton 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