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Individuals presenting two CFs have been termed VATER\/VACTERL\u2010like. Recently, <jats:italic>FOXF1<\/jats:italic>, <jats:italic>HSPA6<\/jats:italic>, <jats:italic>HAAO<\/jats:italic>, <jats:italic>KYNU<\/jats:italic>, <jats:italic>TRAP1<\/jats:italic>, and <jats:italic>ZIC3<\/jats:italic> have been proposed as candidate genes for VATER\/VACTERL, VATER\/VACTERL\u2010like, and ARM. Re\u2010sequencing studies identified disease\u2010causing variants in <jats:italic>TRAP1<\/jats:italic> and <jats:italic>ZIC3<\/jats:italic>, the contribution of other genes was not independently investigated. One affected variant carrier in <jats:italic>FOXF1<\/jats:italic> was previously identified. Here we re\u2010sequenced <jats:italic>FOXF1<\/jats:italic>, <jats:italic>HSPA6<\/jats:italic>, <jats:italic>HAAO<\/jats:italic>, and <jats:italic>KYNU<\/jats:italic> in 522 affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using molecular inversion probe (MIP) technology, re\u2010sequencing was performed in 63 individuals with VATER\/VACTERL association, 313 with VATER\/VACTERL\u2010like association, and 146 with ARM. All individuals were of European ethnicity. Variant filtering considered variants with a minor allele frequency (MAF) \u22640.01 for putative recessive disease\u2010genes <jats:italic>HSPA6<\/jats:italic>, <jats:italic>HAAO<\/jats:italic>, and <jats:italic>KYNU<\/jats:italic>. For the putative dominant disease\u2010gene <jats:italic>FOXF1<\/jats:italic> we considered variants with a MAF \u22640.0001. In silico prediction tools were used for further prioritization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only two variants in <jats:italic>FOXF1<\/jats:italic> in two independently affected individuals [c.443G&gt;T, p.(Cys148Phe); c.850T&gt;C, p.(Tyr284His)] passed our filter criteria. One individual presented with ARM, the second presented with TE and C comprising atrial and ventricular septal defects. Sanger sequencing confirmed both variants but also their inheritance from the healthy mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our analysis suggests that <jats:italic>FOXF1<\/jats:italic>, <jats:italic>HSPA6<\/jats:italic>, <jats:italic>HAAO<\/jats:italic> and <jats:italic>KYNU<\/jats:italic> do not play a major role in the formation of VACTER\/VACTERL phenotypes or ARM.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2008","type":"journal-article","created":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T06:00:48Z","timestamp":1648792848000},"page":"478-486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Re\u2010sequencing of candidate genes <scp>FOXF1<\/scp>, <scp>HSPA6<\/scp>, <scp>HAAO<\/scp>, and <scp>KYNU<\/scp> in 522 individuals with <scp>VATER<\/scp>\/<scp>VACTERL<\/scp>, <scp>VACTER<\/scp>\/<scp>VACTERL<\/scp>\u2010like association, and isolated anorectal malformation"],"prefix":"10.1002","volume":"114","author":[{"given":"Corina E.","family":"Thiem","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Medical Faculty of the University Bonn &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jil D.","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical Faculty of the University Bonn &amp; University Hospital Bonn  Bonn Germany"},{"name":"Institute of Anatomy and Cell Biology, Medical Faculty University of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina C.","family":"Hilger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Medical Faculty of the University Bonn &amp; University Hospital Bonn  Bonn Germany"},{"name":"Department of Pediatrics and Adolescent Medicine Friedrich\u2010Alexander\u2010University Erlangen\u2010N\u00fcrnberg  Erlangen 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Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eberhard","family":"Schmiedeke","sequence":"additional","affiliation":[{"name":"Clinic for Paediatric Surgery and Paediatric Urology Klinikum Bremen\u2010Mitte  Bremen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank\u2010Mattias","family":"Sch\u00e4fer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery and Urology Cnopf'sche Kinderklinik  N\u00fcrnberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Lacher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University of Leipzig  Leipzig Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferdinand","family":"Kosch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery St\u00e4dtisches Klinikum Karlsruhe  Karlsruhe 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