{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:30:44Z","timestamp":1791300644143,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,9,21]],"date-time":"2018-09-21T00:00:00Z","timestamp":1537488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>The <jats:italic>ornithine decarboxylase 1<\/jats:italic> (<jats:italic>ODC1<\/jats:italic>) gene plays an important role in physiological and cell developmental processes including embryogenesis, organogenesis, and neoplastic cell growth. Here, we report an 32\u2010month\u2010old Caucasian female with a heterozygous de novo nonsense mutation in the <jats:italic>ODC1<\/jats:italic> gene that leads to a premature abrogation of 14\u2010aa residues at the ODC protein c\u2010terminus. This is the first human case confirming similar symptoms observed in a transgenic <jats:italic>ODC1<\/jats:italic> mouse model first described over 20\u2009years ago. Phenotypic manifestations include macrosomia, macrocephaly, developmental delay, alopecia, spasticity, hypotonia, cutaneous vascular malformation, delayed visual maturation, and sensorineural hearing loss. We here describe for the first time a new pediatric disorder that is directly linked to a de novo pathogenic variant in the <jats:italic>ODC1<\/jats:italic> gene. The <jats:italic>ODC1<\/jats:italic> gene mutation (c.1342 A&gt;T) was identified by whole\u2010exome sequencing and confirmed by Sanger sequencing. Red blood cells obtained from our patient showed elevated ODC protein and polyamine levels compared to healthy controls. Our autosomal dominant patient who carries this gain\u2010of\u2010function <jats:italic>ODC1<\/jats:italic> mutation may benefit from treatment with \u03b1\u2010difluoromethylornithine, a well\u2010tolerated, U.S. Food and Drug Administration (FDA). FDA\u2010approved drug.<\/jats:p>","DOI":"10.1002\/ajmg.a.40523","type":"journal-article","created":{"date-parts":[[2018,9,22]],"date-time":"2018-09-22T00:15:02Z","timestamp":1537575302000},"page":"2548-2553","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Novel de novo pathogenic variant in the <i>ODC1<\/i> gene in a girl with developmental delay, alopecia, and dysmorphic features"],"prefix":"10.1002","volume":"176","author":[{"given":"Caleb P.","family":"Bupp","sequence":"first","affiliation":[{"name":"Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital  Grand Rapids Michigan"},{"name":"Department of Pediatrics and Human Development College of Human Medicine, Michigan State University  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad R.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development College of Human Medicine, Michigan State University  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie L.","family":"Uhl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development College of Human Medicine, Michigan State University  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surender","family":"Rajasekaran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development College of Human Medicine, Michigan State University  Grand Rapids Michigan"},{"name":"Pediatric Critical Care Medicine Helen DeVos Children's Hospital  Grand Rapids Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6510-8560","authenticated-orcid":false,"given":"Andr\u00e9 S.","family":"Bachmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Human Development College of Human 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