{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T11:38:58Z","timestamp":1765280338304,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T00:00:00Z","timestamp":1669766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The NFIA (nuclear factor I\/A) gene encodes for a transcription factor belonging to the nuclear factor I family and has key roles in various embryonic differentiation pathways. In humans, NFIA is the major contributor to the phenotypic traits of \u201cChromosome 1p32p31 deletion syndrome\u201d. We report on two new cases with deletions involving NFIA without any other pathogenic protein-coding gene alterations. A cohort of 24 patients with NFIA haploinsufficiency as the sole anomaly was selected by reviewing the literature and public databases in order to analyze all clinical features reported and their relative frequencies. This process was useful because it provided an overall picture of the phenotypic outcome of NFIA haploinsufficiency and helped to define a cluster of phenotypic traits that can facilitate clinicians in identifying affected patients. NFIA haploinsufficiency can be suspected by a careful observation of the dysmorphisms (macrocephaly, craniofacial, and first-finger anomalies), and this potential diagnosis is strengthened by the presence of intellectual and developmental disabilities or other neurodevelopmental disorders. Further clues of NFIA haploinsufficiency can be provided by instrumental tests such as MRI and kidney urinary tract ultrasound and confirmed by genetic testing.<\/jats:p>","DOI":"10.3390\/genes13122249","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T03:49:13Z","timestamp":1669780153000},"page":"2249","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature"],"prefix":"10.3390","volume":"13","author":[{"given":"Veronica","family":"Bertini","sequence":"first","affiliation":[{"name":"Cytogenetic Unit, Department of Laboratory Medicine, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Cambi","sequence":"additional","affiliation":[{"name":"Cytogenetic Unit, Department of Laboratory Medicine, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Orsini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Bonuccelli","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aureliano","family":"Fiorini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2668-6373","authenticated-orcid":false,"given":"Andrea","family":"Santangelo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Scacciati","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Elia","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ornella","family":"Galesi","sequence":"additional","affiliation":[{"name":"Oasi Research Institute\u2014IRCCS, 94018 Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0234-1373","authenticated-orcid":false,"given":"Diego","family":"Peroni","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Valetto","sequence":"additional","affiliation":[{"name":"Cytogenetic Unit, Department of Laboratory Medicine, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1371\/journal.pgen.0030080","article-title":"NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects","volume":"3","author":"Lu","year":"2007","journal-title":"PLoS Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/ajmg.10595","article-title":"Interstitial microdeletion of Chromosome 1p in two siblings","volume":"111","author":"Campbell","year":"2002","journal-title":"Am. 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