{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:15:27Z","timestamp":1788315327114,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["101156387"],"award-info":[{"award-number":["101156387"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Nuclear factor I (NFI) transcription factors regulate neural stem and progenitor differentiation during brain development. While\n                    <jats:italic>NFIA<\/jats:italic>\n                    ,\n                    <jats:italic>NFIB<\/jats:italic>\n                    , and\n                    <jats:italic>NFIX<\/jats:italic>\n                    are linked to neurodevelopmental disorders, the role of\n                    <jats:italic>NFIC<\/jats:italic>\n                    (MIM: 600729) in human disease remains unclear. This study aimed to determine whether\n                    <jats:italic>NFIC<\/jats:italic>\n                    contributes to a neurodevelopmental syndrome, define its phenotype, and assess dosage\u2010dependent effects. We established the first cohort of 11 individuals, including\n                    <jats:italic>NFIC<\/jats:italic>\n                    deletions and single nucleotide variants. Genotype\u2013phenotype correlations, including critical region mapping, were performed. Murine data and bioinformatics were integrated to explore underlying pathomechanisms. We report 11 individuals with\n                    <jats:italic>NFIC<\/jats:italic>\n                    variants, including four with de novo SNVs and seven with deletions encompassing the gene, of whom nine have not been previously reported. A core phenotype of syndromic intellectual disability and macrocephaly was delineated. Opposing cranial phenotypes relative to proximal 19p13.3 duplication cases support a dosage\u2010sensitive effect and a mirror\u2010syndrome model.\n                    <jats:italic>NFIC<\/jats:italic>\n                    \u2010related disorder represents a novel neurodevelopmental syndrome characterized by intellectual disability and macrocephaly, highlighting the importance of\n                    <jats:italic>NFIC<\/jats:italic>\n                    dosage supporting a mirror\u2010syndrome model.\n                  <\/jats:p>","DOI":"10.1111\/cge.70215","type":"journal-article","created":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:38:31Z","timestamp":1784947111000},"page":"449-459","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Delineation of a Novel Mirror Syndrome:\n                    <i>NFIC<\/i>\n                    Variants Cause Syndromic Intellectual Disability With Macrocephaly"],"prefix":"10.1111","volume":"110","author":[{"given":"Nathalie","family":"Vanden Eynde","sequence":"first","affiliation":[{"name":"Laboratoire National de Sant\u00e9 (LNS) National Center of Genetics (NCG)  Dudelange Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"H\u00e9rissant","sequence":"additional","affiliation":[{"name":"Laboratoire National de Sant\u00e9 (LNS) National Center of Genetics (NCG)  Dudelange Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Landais","sequence":"additional","affiliation":[{"name":"Department of Genetics Reims Univeristy Hospital  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3146-1622","authenticated-orcid":false,"given":"Matthieu","family":"Egloff","sequence":"additional","affiliation":[{"name":"CHU de Poitiers Service de G\u00e9n\u00e9tique  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[{"name":"Department of Genetics, Necker\u2010Enfants Malades AP\u2010HP, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[{"name":"Department of Genetics, Necker\u2010Enfants Malades AP\u2010HP, Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[{"name":"Department of Genetics Nice University Hospital  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"additional","affiliation":[{"name":"Department of Genetics Nice University Hospital  Nice 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Cyril and Methodius University  Skopje North Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brynn","family":"Shrom\u2010Model","sequence":"additional","affiliation":[{"name":"Saint Louis University School of Medicine, Division of Medical Genetics SSM Health Cardinal Glennon Children's Hospital  St Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen R.","family":"Braddock","sequence":"additional","affiliation":[{"name":"Saint Louis University School of Medicine, Division of Medical Genetics SSM Health Cardinal Glennon Children's Hospital  St Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hillman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School at UTHealth Houston  Houston Texas 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