{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T08:01:21Z","timestamp":1751702481652,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T00:00:00Z","timestamp":1599609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","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":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>NFIB<\/jats:italic> (Nuclear Factor I B) haploinsufficiency has recently been identified as a cause of intellectual disability and macrocephaly. Here we describe two patients with pathogenic variants in <jats:italic>NFIB<\/jats:italic>. The first is a 6\u2010year\u2010old Latino male with developmental delays, mild hypotonia, facial anomalies, and brain magnetic resonance imaging findings comprising mild thinning of the corpus callosum, with more marked thinning of the splenium and blunting of the rostrum and cavum septum pellucidum. Exome sequencing identified a previously described de novo variant in <jats:italic>NFIB<\/jats:italic>, c.265C&gt;T, predicting p.Arg89Ter. The second is a 5\u2010year\u2010old Latino male with developmental delays, hypotonia, dysmorphic features, a preauricular tag and pit, a small ventricular septal defect, and brain magnetic resonance imaging findings including a dysmorphic corpus callosum and a small posterior fossa. A single nucleotide polymorphism microarray identified a 92\u2009kb interstitial deletion at 9p23 including several exons of <jats:italic>NFIB<\/jats:italic> and no other known genes. Our two patients add to the knowledge of this rare condition through our addition of new brain MRI findings and dysmorphic features. Additionally, these are the first known Latino patients to be described with <jats:italic>NFIB<\/jats:italic> haploinsufficiency, expanding our understanding of the associated facial features in diverse populations. Further data are needed to determine genotype\u2013phenotype relationships for <jats:italic>NFIB<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.61852","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T07:31:14Z","timestamp":1600414274000},"page":"2959-2963","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The expanding spectrum of <scp><i>NFIB<\/i><\/scp>\u2010associated phenotypes in a diverse patient population\u2014A report of two new patients"],"prefix":"10.1002","volume":"182","author":[{"given":"Kathleen","family":"Barrus","sequence":"first","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"},{"name":"Department of Genetics Stanford University School of Medicine  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1910-7441","authenticated-orcid":false,"given":"Shannon","family":"Rego","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"Yip","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre\u2010Marie","family":"Martin","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orit A.","family":"Glen","sequence":"additional","affiliation":[{"name":"Department of Radiology and Biomedical Imaging University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Van Ziffle","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University of California, San Francisco  San Francisco California USA"},{"name":"Division of Medical Genetics, Department of Pediatrics University of California, San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0205298"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.09.033"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61450"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025909109843"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1749-8104-4-43"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3720"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003823"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.006"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.2.685-698.2005"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31747"}],"container-title":["American 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