{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T12:39:21Z","timestamp":1771331961548,"version":"3.50.1"},"reference-count":33,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype\u2013phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>This study will help to establish new genotype\u2013phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/j.pbj.0000000000000198","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T18:00:56Z","timestamp":1675792856000},"page":"e198","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study"],"prefix":"10.1097","volume":"8","author":[{"given":"Beatriz","family":"Sousa","sequence":"first","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal"}]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal"},{"name":"Medical Genetics Service, Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"I3S-Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]},{"given":"Joel","family":"Pinto","sequence":"additional","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal"},{"name":"I3S-Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]},{"given":"Helena","family":"Santos","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuroscience Unit, Centro Hospitalar Vila Nova de Gaia\/Espinho\u2014CHVNG, Vila Nova de Gaia, Portugal."}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9225-9076","authenticated-orcid":false,"given":"Sofia","family":"D\u00f3ria","sequence":"additional","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Portugal"},{"name":"I3S-Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]}],"member":"276","published-online":{"date-parts":[[2023,1]]},"reference":[{"issue":"7034","key":"R1-20241001","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/nature03466","article-title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4","volume":"434","author":"Hillier","year":"2005","journal-title":"Nature"},{"issue":"20","key":"R2-20241001","doi-asserted-by":"crossref","first-page":"9051","DOI":"10.1073\/pnas.88.20.9051","article-title":"Origin of human chromosome 2: an ancestral telomere-telomere fusion","volume":"88","author":"IJdo","year":"1991","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7118","key":"R4-20241001","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/nature05329","article-title":"Global variation in copy number in the human genome","volume":"444","author":"Redon","year":"2006","journal-title":"Nature"},{"issue":"1","key":"R5-20241001","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1755-8166-7-52","article-title":"Interstitial microduplication at 2p11. 2 in a patient with syndromic intellectual disability: 30-year follow-up","volume":"7","author":"Jun","year":"2014","journal-title":"Mol Cytogenet."},{"issue":"1","key":"R6-20241001","doi-asserted-by":"crossref","first-page":"25","DOI":"10.3171\/2012.3.PEDS11559","article-title":"Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele: case report","volume":"10","author":"Vogel","year":"2012","journal-title":"J Neurosurg Pediatr."},{"issue":"4","key":"R7-20241001","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/ejhg.2014.124","article-title":"A recurrent deletion syndrome at chromosome bands 2p11. 2-2p12 flanked by segmental duplications at the breakpoints and including REEP1","volume":"23","author":"Stevens","year":"2015","journal-title":"Eur J Hum Genet."},{"issue":"4","key":"R8-20241001","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1002\/ajmg.b.31063","article-title":"Deletions of NRXN1 (neurexin\u20101) predispose to a wide spectrum of developmental disorders","volume":"153B","author":"Ching","year":"2010","journal-title":"Am J Med Genet B, Neuropsychiatr Genet."},{"issue":"7","key":"R9-20241001","doi-asserted-by":"crossref","first-page":"e12687","DOI":"10.1111\/gbb.12687","article-title":"Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: report of five new cases","volume":"19","author":"Alfieri","year":"2020","journal-title":"Genes Brain Behav."},{"issue":"4","key":"R10-20241001","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1097\/YPG.0b013e328353ae3d","article-title":"Microduplications disrupting the MYT1L gene (2p25. 3) are associated with schizophrenia","volume":"22","author":"Lee","year":"2012","journal-title":"Psychiatr Genet."},{"issue":"2","key":"R11-20241001","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.38022","article-title":"SATB2\u2010associated syndrome: mechanisms, phenotype, and practical recommendations","volume":"173","author":"Zarate","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"4","key":"R12-20241001","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/ajmg.b.32627","article-title":"Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications","volume":"177","author":"Wolfe","year":"2018","journal-title":"Am J Med Genet B: Neuropsychiatr Genet."},{"issue":"11","key":"R13-20241001","doi-asserted-by":"crossref","first-page":"2664","DOI":"10.1002\/ajmg.a.37269","article-title":"Recurrent deletions and duplications of chromosome 2q11. 2 and 2q13 are associated with variable outcomes","volume":"167A","author":"Riley","year":"2015","journal-title":"Am J Med Genet A"},{"issue":"16","key":"R14-20241001","doi-asserted-by":"crossref","first-page":"4272","DOI":"10.1093\/hmg\/ddu144","article-title":"Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations","volume":"23","author":"Russell","year":"2014","journal-title":"Hum Mol Genet."},{"issue":"1","key":"R15-20241001","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s13039-015-0157-0","article-title":"A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms","volume":"8","author":"Hladilkova","year":"2015","journal-title":"Mol Cytogenet."},{"issue":"2","key":"R17-20241001","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1002\/ajmg.a.32637","article-title":"Interstitial deletion 2p11. 2\u2013p12: report of a patient with mental retardation and review of the literature","volume":"149A","author":"Tzschach","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"4","key":"R18-20241001","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1093\/brain\/awn026","article-title":"REEP1 mutation spectrum and genotype\/phenotype correlation in hereditary spastic paraplegia type 31","volume":"131","author":"Beetz","year":"2008","journal-title":"Brain"},{"issue":"1","key":"R19-20241001","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s10048-018-0561-9","article-title":"Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome","volume":"20","author":"Borna","year":"2019","journal-title":"Neurogenetics"},{"issue":"11","key":"R20-20241001","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/ejhg.2012.73","article-title":"CNVs leading to fusion transcripts in individuals with autism spectrum disorder","volume":"20","author":"Holt","year":"2012","journal-title":"Eur J Hum Genet."},{"issue":"4","key":"R21-20241001","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nn1212","article-title":"Stability of dendritic spines and synaptic contacts is controlled by \u03b1N-catenin","volume":"7","author":"Abe","year":"2004","journal-title":"Nat Neurosci."},{"issue":"10","key":"R22-20241001","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1002\/ajmg.a.33064","article-title":"Interstitial deletion 2p11. 2\u2013p12: further delineation","volume":"149A","author":"Writzl","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"39","key":"R23-20241001","doi-asserted-by":"crossref","first-page":"15124","DOI":"10.1073\/pnas.0801639105","article-title":"Mutational analysis of the neurexin\/neuroligin complex reveals essential and regulatory components","volume":"105","author":"Reissner","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"R24-20241001","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/cge.13537","article-title":"Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: a systematic review","volume":"97","author":"Castronovo","year":"2020","journal-title":"Clin Genet."},{"issue":"3","key":"R25-20241001","first-page":"845","article-title":"Identification and characterization of ASXL2 gene in silico","volume":"23","author":"Katoh","year":"2003","journal-title":"Int J Oncol."},{"issue":"4","key":"R26-20241001","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.ajhg.2016.08.017","article-title":"De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype","volume":"99","author":"Shashi","year":"2016","journal-title":"Am J Hum Genet."},{"issue":"8","key":"R27-20241001","doi-asserted-by":"crossref","first-page":"e1006957","DOI":"10.1371\/journal.pgen.1006957","article-title":"MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus","volume":"13","author":"Blanchet","year":"2017","journal-title":"PLoS Genet."},{"issue":"4","key":"R28-20241001","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.b.32781","article-title":"MYT1L: a systematic review of genetic variation encompassing schizophrenia and autism","volume":"183","author":"Mansfield","year":"2020","journal-title":"Am J Med Genet B: Neuropsychiatr Genet."},{"issue":"4","key":"R29-20241001","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/ajmg.b.32236","article-title":"Adult neuropsychiatric expression and familial segregation of 2q13 duplications","volume":"165B","author":"Costain","year":"2014","journal-title":"Am J Med Genet B: Neuropsychiatr Genet."},{"issue":"4","key":"R30-20241001","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ajhg.2011.09.011","article-title":"Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder","volume":"89","author":"Talkowski","year":"2011","journal-title":"Am J Hum Genet."},{"issue":"12","key":"R31-20241001","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1038\/ejhg.2013.22","article-title":"Extended spectrum of MBD5 mutations in neurodevelopmental disorders","volume":"21","author":"Bonnet","year":"2013","journal-title":"Eur J Hum Genet."},{"issue":"8","key":"R32-20241001","first-page":"1013","article-title":"Mutation update for the SATB2 gene","volume":"40","author":"Zarate","year":"2019","journal-title":"Hum Mutat."},{"issue":"5","key":"R33-20241001","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1002\/ajmg.a.35679","article-title":"Interstitial duplication of 2q32. 1\u2013q33. 3 in a patient with epilepsy, developmental delay, and autistic behavior","volume":"161A","author":"Usui","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"3","key":"R34-20241001","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ajhg.2008.08.009","article-title":"FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency","volume":"83","author":"Ghezzi","year":"2008","journal-title":"Am J Hum Genet."},{"issue":"2","key":"R35-20241001","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","author":"Williams","year":"2010","journal-title":"Am J Hum Genet."}],"container-title":["Porto Biomedical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/j.pbj.0000000000000198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T19:03:55Z","timestamp":1727809435000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/j.pbj.0000000000000198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.1097\/j.pbj.0000000000000198","relation":{},"ISSN":["2444-8664"],"issn-type":[{"value":"2444-8664","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"2022-05-25","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-22","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}