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During brain development in mice, the expression patterns of <jats:italic>Nfia<\/jats:italic>, <jats:italic>Nfib<\/jats:italic>, and <jats:italic>Nfix<\/jats:italic> overlap, and knockout mice for each of these exhibit overlapping brain defects, including megalencephaly, dysgenesis of the corpus callosum, and enlarged ventricles, which implies a common but not redundant function in brain development. In line with these models, human phenotypes caused by haploinsufficiency of <jats:italic>NFIA<\/jats:italic>, <jats:italic>NFIB<\/jats:italic>, and <jats:italic>NFIX<\/jats:italic> display significant overlap, sharing neurodevelopmental deficits, macrocephaly, brain anomalies, and variable somatic overgrowth. Other anomalies may be present depending on the <jats:italic>NFI<\/jats:italic> gene involved. The possibility of variants in <jats:italic>NFI<\/jats:italic> genes should therefore be considered in individuals with intellectual disability and brain overgrowth, with individual NFI\u2010related conditions being differentiated from one another by additional signs and symptoms. The exception is provided by specific <jats:italic>NFIX<\/jats:italic> variants that act in a dominant negative manner, as these cause a recognizable entity with more severe cognitive impairment and marked bone dysplasia, Marshall\u2013Smith syndrome. <jats:italic>NFIX<\/jats:italic> duplications are associated with a phenotype opposite to that of haploinsufficiency, characterized by short stature, small head circumference, and delayed bone age. The spectrum of NFI\u2010related disorders will likely be further expanded, as larger cohorts are assessed.<\/jats:p>","DOI":"10.1002\/ajmg.c.31747","type":"journal-article","created":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T15:33:25Z","timestamp":1573832005000},"page":"611-626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Variants in nuclear factor I genes influence growth and development"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital, Otto\u2010von\u2010Guericke\u2010University  Magdeburg 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