{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T22:35:25Z","timestamp":1778020525405,"version":"3.51.4"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the <jats:italic toggle=\"yes\">MYCN<\/jats:italic> gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have been described associated with this abnormality. We describe here a pedigree combining familial CAFPL tendon as a feature of FGLDS1. Molecular analyses of whole exome sequence data in five affected family members spanning three generations of this family revealed a novel mutation in the <jats:italic toggle=\"yes\">MYCN<\/jats:italic> gene (c.1171C&gt;T; p.Arg391Cys). Variants in <jats:italic toggle=\"yes\">MYCN<\/jats:italic> have not been published in association with isolated or syndromic CAFPL tendon, nor has this been described as a skeletal feature of Feingold syndrome. This report expands on the clinical and molecular spectrum of <jats:italic toggle=\"yes\">MYCN<\/jats:italic>-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000342","type":"journal-article","created":{"date-parts":[[2020,9,14]],"date-time":"2020-09-14T13:22:11Z","timestamp":1600089731000},"page":"71-75","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1"],"prefix":"10.1097","volume":"30","author":[{"given":"Amir","family":"Peleg","sequence":"first","affiliation":[{"name":"The Genetics Institute, Lady Davis Carmel Medical Center"},{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion \u2013 Israel Institute of 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Medical Center"},{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion \u2013 Israel Institute of Technology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adi","family":"Mory","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion \u2013 Israel Institute of Technology"},{"name":"The Genetics Institute, Rambam Health Care Campus, Haifa, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar","family":"Paperna","sequence":"additional","affiliation":[{"name":"The Genetics Institute, Rambam Health Care Campus, Haifa, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.R.","family":"Shuldiner","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center, Tarrytown, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Gonzaga-Jauregui","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center, Tarrytown, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noam","family":"Adir","sequence":"additional","affiliation":[{"name":"The Schulich Faculty of Chemistry, Technion-Israel Institute of Technology, Haifa, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit","family":"Baris Feldman","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion \u2013 Israel Institute of Technology"},{"name":"The Genetics Institute, Rambam Health Care Campus, Haifa, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Wollstein","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion \u2013 Israel Institute of Technology"},{"name":"New York University School of Medicine, New York, 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