{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:03:03Z","timestamp":1790809383584,"version":"4.1.0"},"reference-count":73,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T00:00:00Z","timestamp":1619481600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["RC 08C922"],"award-info":[{"award-number":["RC 08C922"]}]},{"name":"The Biobank of the Laboratory of Human Genetics - IRCCS G. Gaslini","award":["GTB18001"],"award-info":[{"award-number":["GTB18001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and\/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which FBXO25, DLGAP2, CLN8, ARHGEF10 and MYOM2 are the main candidates. Here we present seven additional patients with 8p23.2-pter microdeletions, ranging from 71.79 kb to 4.55 Mb. The review of five previously reported and nine Decipher patients confirmed the association of the CR with a variable clinical phenotype characterized by intellectual disability\/developmental delay, including language and speech delay and\/or motor impairment, behavioral anomalies, autism spectrum disorder, dysmorphisms, microcephaly, fingers\/toes anomalies and epilepsy. Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions. This region is more restricted compared to the previously proposed CR. Overall, our data favor the hypothesis that DLGAP2 is the actual strongest candidate for neurodevelopmental\/behavioral phenotypes. Additional patients will be necessary to validate the pathogenic role of DLGAP2 and better define how the two contiguous genes, ARHGEF10 and CLN8, might contribute to the clinical phenotype.<\/jats:p>","DOI":"10.3390\/genes12050652","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T21:18:20Z","timestamp":1619558300000},"page":"652","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8108-1521","authenticated-orcid":false,"given":"Ilaria","family":"Catusi","sequence":"first","affiliation":[{"name":"Istituto Auxologico Italiano, IRCCS, Laboratory of Medical Cytogenetics and Molecular Genetics, 20145 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2279-1723","authenticated-orcid":false,"given":"Maria","family":"Garzo","sequence":"additional","affiliation":[{"name":"Istituto Auxologico Italiano, IRCCS, Laboratory of Medical Cytogenetics and Molecular Genetics, 20145 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1428-3609","authenticated-orcid":false,"given":"Anna Paola","family":"Capra","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98100 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5213-441X","authenticated-orcid":false,"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98100 Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7508-3953","authenticated-orcid":false,"given":"Chiara","family":"Baldo","sequence":"additional","affiliation":[{"name":"UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2292-4015","authenticated-orcid":false,"given":"Maria Paola","family":"Canevini","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit\u2014Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Universit\u00e0 Degli Studi di Milano, 20142 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachele","family":"Cantone","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flaviana","family":"Elia","sequence":"additional","affiliation":[{"name":"Unit of Psychology, Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Guy\u2019s &amp; St Thomas\u2019 NHS Foundation Trust, London SE1 9RT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ornella","family":"Galesi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Grosso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Malacarne","sequence":"additional","affiliation":[{"name":"UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-6548","authenticated-orcid":false,"given":"Angela","family":"Peron","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit\u2014Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Universit\u00e0 Degli Studi di Milano, 20142 Milan, Italy"},{"name":"Human Pathology and Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142 Milan, Italy"},{"name":"Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1049-0683","authenticated-orcid":false,"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Medical Genetics, Oasi Research Institute-IRCCS, 94018 Troina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1653-0335","authenticated-orcid":false,"given":"Monica","family":"Saccani","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit\u2014Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Universit\u00e0 Degli Studi di Milano, 20142 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1367-7227","authenticated-orcid":false,"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[{"name":"Istituto Auxologico Italiano, IRCCS, Laboratory of Medical Cytogenetics and Molecular Genetics, 20145 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1780-9837","authenticated-orcid":false,"given":"Maria Paola","family":"Recalcati","sequence":"additional","affiliation":[{"name":"Istituto Auxologico Italiano, IRCCS, Laboratory of Medical Cytogenetics and Molecular Genetics, 20145 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Lo Bianco, M., Vecchio, D., Timpanaro, T.A., Arena, A., Macchiaiolo, M., Bartuli, A., Sciuto, L., Presti, S., Sciuto, S., and Sapuppo, A. 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