{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T03:43:45Z","timestamp":1768880625298,"version":"3.49.0"},"reference-count":25,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ricerca Corrente","award":["RC2025-2026"],"award-info":[{"award-number":["RC2025-2026"]}]},{"name":"Ricerca Corrente","award":["RCR-2022-23682289_IDEA"],"award-info":[{"award-number":["RCR-2022-23682289_IDEA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Interstitial deletions of the short arm of chromosome 12 are rare, and very little is known about the potential genetic basis of the most common phenotypic presentations to date described in the literature. Methods: In the present study, we present a new patient carrying a heterozygous de novo 12p deletion, identified by a-CGH. Results: Comparison between the new case with phenotypically similar 12p-deleted patients drawn from the literature and from the DECIPHER (the DatabasE of Chromosomal Imbalances and Phenotypes using Ensembl Resources) database allowed us to analyze 22 cases and to define a revised minimal critical region not previously considered. Discussion: Within the new minimal critical region, we identified genes intolerant to haploinsufficiency, highlighting the involvement of PTHLH and CCDC91 in the onset of skeletal abnormalities and proposing the involvement of PPFIBP1 in neurodevelopmental disorders (although it has previously been associated only with autosomal recessive conditions). Conclusions: We suggest that clinical severity in cases with 12p deletions varies depending on the cytobands involved, being more moderate when they occur at 12p11\u2014where the gene DENND5B (12p11.23) has recently been associated with a dominant neurodevelopmental disorder\u2014than at 12p12.<\/jats:p>","DOI":"10.3390\/genes17010104","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T14:58:54Z","timestamp":1768834734000},"page":"104","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0316-4903","authenticated-orcid":false,"given":"Flavia","family":"Privitera","sequence":"first","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Via Dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2456-260X","authenticated-orcid":false,"given":"Stefano","family":"Pagano","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Via Dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5651-4970","authenticated-orcid":false,"given":"Lorenzo","family":"Cipriano","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Via Dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Nutile","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Via Dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3170-1187","authenticated-orcid":false,"given":"Annarita","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Developmental Psychiatry and Psychopharmacology, IRCCS Stella Maris Foundation, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128 Pisa, Italy"},{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Via Dei Giacinti 2, 56128 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1002\/ajmg.a.33030","article-title":"A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21\u201312p12.2 by oligonucleotide array CGH","volume":"149A","author":"Lu","year":"2009","journal-title":"Am. 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