{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T14:10:47Z","timestamp":1775052647717,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,8,1]],"date-time":"2015-08-01T00:00:00Z","timestamp":1438387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,8]]},"DOI":"10.1016\/j.ejmg.2015.06.001","type":"journal-article","created":{"date-parts":[[2015,6,24]],"date-time":"2015-06-24T17:36:14Z","timestamp":1435167374000},"page":"400-405","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Variable expressivity of a familial 1.9\u00a0Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype"],"prefix":"10.1016","volume":"58","author":[{"given":"Emanuela","family":"Ponzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Asaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Orteschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Genuardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2015.06.001_bib1","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1038\/sj.ejhg.5200676","article-title":"TP63 gene mutation in ADULT syndrome","volume":"9","author":"Amiel","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2015.06.001_bib2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/12623","article-title":"A\u00a0new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation","volume":"23","author":"Carri\u00e9","year":"1999","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2015.06.001_bib3","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1177\/0883073814539557","article-title":"An additional patient with 3q27.3 microdeletion syndrome","volume":"30","author":"Castori","year":"2014","journal-title":"J.\u00a0Child. Neurol."},{"issue":"6","key":"10.1016\/j.ejmg.2015.06.001_bib4","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1186\/1756-0500-6-527","article-title":"A\u00a0novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis","volume":"10","author":"Deeb","year":"2013","journal-title":"BMC Res. Notes"},{"key":"10.1016\/j.ejmg.2015.06.001_bib5","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1002\/ajmg.a.31244","article-title":"Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients","volume":"140","author":"Elliott","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.06.001_bib6","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1002\/ajmg.a.33833","article-title":"Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism","volume":"155A","author":"Franek","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.06.001_bib7","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1056\/NEJMoa1200395","article-title":"Phenotypic heterogeneity of genomic disorders and rare copy-number variants","volume":"367","author":"Girirajan","year":"2012","journal-title":"N.\u00a0Engl. J. Med."},{"issue":"1","key":"10.1016\/j.ejmg.2015.06.001_bib8","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.yfrne.2008.10.001","article-title":"Interleukin-1 (IL-1): a central regulator of stress responses","volume":"30","author":"Goshen","year":"2009","journal-title":"Front. Neuroendocrinol."},{"key":"10.1016\/j.ejmg.2015.06.001_bib9","doi-asserted-by":"crossref","first-page":"e66254","DOI":"10.1371\/journal.pone.0066254","article-title":"IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway","volume":"8","author":"Hayashi","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2015.06.001_bib10","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1084\/jem.187.9.1463","article-title":"Production of mice deficient in genes for interleukin (IL)-1\u03b1, IL-1\u03b2, IL-1\u03b1\/\u03b2, and IL-1 receptor antagonist shows that IL-1\u03b2 is crucial in turpentine-induced fever development and glucocorticoid secretion","volume":"187","author":"Horai","year":"1998","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.ejmg.2015.06.001_bib11","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1086\/302972","article-title":"Split-hand\/split-foot malformation is caused by mutations in the p63 gene on 3q27","volume":"67","author":"Ianakiev","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2015.06.001_bib12","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet. Med."},{"key":"10.1016\/j.ejmg.2015.06.001_bib13","doi-asserted-by":"crossref","first-page":"3408","DOI":"10.2174\/138161208786549281","article-title":"The role of cytokines in sleep regulation","volume":"14","author":"Krueger","year":"2008","journal-title":"Curr. Pharm. Des."},{"key":"10.1016\/j.ejmg.2015.06.001_bib14","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1084\/jem.20030299","article-title":"IL-1 plays an important role in lipid metabolism by regulating insulin levels under physiological conditions","volume":"198","author":"Matsuki","year":"2003","journal-title":"J.\u00a0Exp. Med."},{"key":"10.1016\/j.ejmg.2015.06.001_bib15","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ajhg.2011.08.003","article-title":"High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2","volume":"89","author":"Mordechai","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2015.06.001_bib16","doi-asserted-by":"crossref","first-page":"3965","DOI":"10.1093\/hmg\/ddn300","article-title":"Mutations in the calcium-related gene IL1RAPL1 are associated with autism","volume":"17","author":"Piton","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2015.06.001_bib17","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ejmg.2009.03.009","article-title":"A\u00a09.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb","volume":"52","author":"Pollazzon","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2015.06.001_bib18","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.1002\/ajmg.a.31482","article-title":"Further phenotypic and genetic variation in ADULT syndrome","volume":"140","author":"Reisler","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.06.001_bib19","doi-asserted-by":"crossref","first-page":"262","DOI":"10.4161\/cc.6.3.3796","article-title":"p63-associated disorders","volume":"6","author":"Rinne","year":"2007","journal-title":"Cell. Cycle"},{"key":"10.1016\/j.ejmg.2015.06.001_bib20","doi-asserted-by":"crossref","first-page":"3104","DOI":"10.1002\/ajmg.a.34335","article-title":"Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin\/AEC\/ADULT syndromes","volume":"155A","author":"Serra","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.06.001_bib21","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/S0166-2236(00)01661-1","article-title":"Interleukin 1 in the brain: biology, pathology and therapeutic target","volume":"23","author":"Rothwell","year":"2000","journal-title":"Trends Neurosci."},{"issue":"5","key":"10.1016\/j.ejmg.2015.06.001_bib22","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/ajmg.a.31107","article-title":"A truncating mutation in the IL1RAPL1 gene is responible for X-linked mental retardation in the MRX21 family","volume":"140","author":"Tabolacci","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.06.001_bib23","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmedgenet-2013-101939","article-title":"3q27.3 microdeletional syndrome: a recognisableclinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder","volume":"51","author":"Thevenon","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2015.06.001_bib24","doi-asserted-by":"crossref","first-page":"e35337","DOI":"10.1371\/journal.pone.0035337","article-title":"Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene","volume":"7","author":"Wei","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2015.06.001_bib25","doi-asserted-by":"crossref","first-page":"7727","DOI":"10.1074\/jbc.272.12.7727","article-title":"The interleukin-1 receptor accessory protein (IL-1RAcP) is essential for IL-1-induced activation of interleukin-1 receptor-associated kinase (IRAK) and stress-activated protein kinases (SAP kinases)","volume":"272","author":"Wesche","year":"1997","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2015.06.001_bib26","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1523\/JNEUROSCI.4637-11.2012","article-title":"Mishina M Interleukin-1 receptor accessory protein organizes neuronal synaptogenesis as a cell adhesion molecule","volume":"32","author":"Yoshida","year":"2012","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ejmg.2015.06.001_bib27","unstructured":"NCBI37 browser: http:\/\/www.ncbi.nlm.nih.gov\/."},{"key":"10.1016\/j.ejmg.2015.06.001_bib28","unstructured":"UCSC browser: http:\/\/genome.ucsc.edu\/."},{"key":"10.1016\/j.ejmg.2015.06.001_bib29","unstructured":"DECIPHER browser: http:\/\/www.decipher.sanger.ac.uk."},{"key":"10.1016\/j.ejmg.2015.06.001_bib30","unstructured":"BIOGPS browser: http:\/\/biogps.org."},{"key":"10.1016\/j.ejmg.2015.06.001_bib31","unstructured":"ExAC browser: http:\/\/exac.broadinstitute.org."},{"key":"10.1016\/j.ejmg.2015.06.001_bib32","unstructured":"OMIM browser: http:\/\/www.omim.org."},{"key":"10.1016\/j.ejmg.2015.06.001_bib33","unstructured":"DBVar browser: http:\/\/www.ncbi.nlm.nih.gov\/dbvar\/."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215001081?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215001081?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:03Z","timestamp":1761709323000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215001081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":33,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["S1769721215001081"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.06.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variable expressivity of a familial 1.9\u00a0Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.06.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}