{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:28:44Z","timestamp":1790375324201,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:00:00Z","timestamp":1471564800000},"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":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Here, we report strong evidence for a role of the <jats:italic>FNDC3B<\/jats:italic> gene in craniofacial development. Chromosomal microarray identified deletions at 3q26.31 in two patients with dysmorphic facial features. Parental FISH studies demonstrated that they are de novo; therefore, these two 3q26.31 microdeletions likely contribute to the patients' dysmorphic features. Interestingly, the minimal region of overlap contains only the <jats:italic>FNDC3B<\/jats:italic> gene. Ffibronectin domain III\u2010containing protein 3B (FNDC3B), also known as factor for adipocyte differentiation\u2010104 (FAD104), was first identified as a positive regulator of adipogenesis in a mouse model. Excitingly, further studies in a mouse model have recently demonstrated that <jats:italic>FNDC3B<\/jats:italic> is required for normal calvarial bone formation and negatively regulated calvarial cell differentiation through inhibition of BMP\/Smad signaling. <jats:italic>fndc3b<\/jats:italic>\u2010deficient mice have multiple cranial and skeletal malformations, such as craniosynostosis\u2010like premature calvarial ossification, and skeletal deformities in the anterior fontanel and femurs. In summary, we report the first two patients with de novo 3q26.31 microdeletions. Both have dysmorphic features, consistent with the phenotypes seen in <jats:italic>fndc3b<\/jats:italic>\u2010deficient mice in animal studies, which imply a critical role of <jats:italic>FNDC3B<\/jats:italic> in human craniofacial development. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37892","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T13:05:51Z","timestamp":1471611951000},"page":"3276-3281","source":"Crossref","is-referenced-by-count":9,"title":["Two cases with de novo 3q26.31 microdeletion suggest a role for <i>FNDC3B<\/i> in human craniofacial development"],"prefix":"10.1002","volume":"170","author":[{"given":"Yang","family":"Cao","sequence":"first","affiliation":[{"name":"Cytogenetics Laboratory Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elyse 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