{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:00:13Z","timestamp":1771261213215,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["NIH Postdoctoral Medical Training Program \/ 5T32GM"],"award-info":[{"award-number":["NIH Postdoctoral Medical Training Program \/ 5T32GM"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rare individuals with 20p11.2 proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, biliary atresia, midline brain defects associated with panhypopituitarism, intellectual disability, scoliosis, and seizures. Deletions have ranged in size from 277\u2009kb to 11.96\u2009Mb. We describe a newborn with a de novo 2.7 Mb deletion of 20p11.22p11.21 that partially overlaps previously reported deletions and encompasses <jats:italic>FOXA2<\/jats:italic>. Her clinical findings further expand the 20p11.2 deletion phenotype to include severe midline cranial and intracranial defects such as aqueductal stenosis with hydrocephalus, mesencephalosynapsis with diencephalic\u2010mesencephalic junction dysplasia, and pyriform aperture stenosis. We also report one individual with a missense variant in <jats:italic>FOXA2<\/jats:italic> who had abnormal glucose homeostasis, panhypopituitarism, and endodermal organ dysfunction. Together, these findings support the critical role of <jats:italic>FOXA2<\/jats:italic> in panhypopituitarism and midline defects.<\/jats:p>","DOI":"10.1002\/ajmg.a.61281","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T11:32:50Z","timestamp":1562844770000},"page":"1783-1790","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for <i>FOXA2<\/i> in 20p11.2 deletion syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1649-2006","authenticated-orcid":false,"given":"Jennifer N.","family":"Dines","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington"},{"name":"Department of Pediatrics, Division of Genetic Medicine University of Washington\/Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-3109","authenticated-orcid":false,"given":"Yajuan J.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington School of Medicine  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Whitney","family":"Neufeld\u2010Kaiser","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Washington School of Medicine  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor","family":"Sawyer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology University of Washington  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisele E.","family":"Ishak","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Washington, Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah M.","family":"Tully","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington"},{"name":"Division of Pediatric Neurology Seattle Children's Hospital  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Racobaldo","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism University of South Florida  Tampa Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amarilis","family":"Sanchez\u2010Valle","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism University of South Florida  Tampa Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine M.","family":"Disteche","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Medical Genetics University of Washington  Seattle Washington"},{"name":"Department of Pathology University of Washington School of Medicine  Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx, Inc.  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