{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:11Z","timestamp":1740126791464,"version":"3.37.3"},"reference-count":35,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute to chromosome 1 disease map, through the analysis of patients with chromosome 1 CNVs.<\/jats:p><jats:p>A cross-sectional study was performed using the array comparative genomic hybridization database of the Genetic Department of the Faculty of Medicine. Patients with pathogenic (P) or likely pathogenic (LP) CNVs on chromosome 1 were selected for the study. Clinical information was collected for all patients. Databases and related literature were used for genotype\u2013phenotype correlation.<\/jats:p><jats:p>From a total of 2,516 patients included in the database we identified 24 patients (0.95%) with P (9 patients) or LP (15 patients) CNVs on chromosome 1. These CNVs account for 6.1% (24\/392 CNVs) of the total P\/LP CNVs in the database. Most common CNVs found were in the 1q21.1\u20131q21.2 region.<\/jats:p><jats:p>This study reinforces the association between chromosome 1 CNV and neurodevelopmental disorders and craniofacial dysmorphisms. Additionally, it also strengthened the idea that CNVs interpretation is not always a linear task due to the broad spectrum of variants that can be identified between benign and clearly pathogenic CNVs.<\/jats:p>","DOI":"10.1055\/s-0042-1754162","type":"journal-article","created":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T23:14:00Z","timestamp":1657840440000},"page":"265-273","source":"Crossref","is-referenced-by-count":2,"title":["Clinical Findings on Chromosome 1 Copy Number Variations"],"prefix":"10.1055","volume":"53","author":[{"given":"Filipa","family":"Leit\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, Porto, Portugal"}]},{"given":"Ana","family":"Grangeia","sequence":"additional","affiliation":[{"name":"Department of Pathology, Genetics Service, Faculty of Medicine, University of Porto, 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, Porto, Portugal"},{"name":"I3S-Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]},{"given":"Armanda","family":"Passas","sequence":"additional","affiliation":[{"name":"Neurodevelopment Unit- UNIA, Centro Hospitalar Vila Nova de Gaia\/Espinho \u2013 CHVNG, 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, Porto, Portugal"},{"name":"I3S-Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, University of Porto, Porto, Portugal"}]}],"member":"194","published-online":{"date-parts":[[2022,7,14]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrg3871","article-title":"A copy number variation map of the human genome","volume":"16","author":"M Zarrei","year":"2015","journal-title":"Nat Rev Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/nature04727","article-title":"The DNA sequence and biological annotation of human chromosome 1","volume":"441","author":"S G Gregory","year":"2006","journal-title":"Nature"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1542\/peds.2007-0929","article-title":"Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation","volume":"121","author":"A Battaglia","year":"2008","journal-title":"Pediatrics"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1086\/515520","article-title":"Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome","volume":"61","author":"S K Shapira","year":"1997","journal-title":"Am J Hum Genet"},{"issue":"12","key":"ref5","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","article-title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities","volume":"40","author":"N Brunetti-Pierri","year":"2008","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"577","DOI":"10.3389\/fgene.2020.00577","article-title":"Disorders associated with diverse, recurrent deletions and duplications at 1q21.1","volume":"11","author":"H Pang","year":"2020","journal-title":"Front Genet"},{"issue":"16","key":"ref7","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes","volume":"359","author":"H C Mefford","year":"2008","journal-title":"N Engl J Med"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13052-017-0380-x","article-title":"Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series","volume":"43","author":"M Bus\u00e8","year":"2017","journal-title":"Ital J Pediatr"},{"issue":"07","key":"ref9","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/ejhg.2012.6","article-title":"Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes","volume":"20","author":"J A Rosenfeld","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"02","key":"ref10","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/510919","article-title":"Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome","volume":"80","author":"E Klopocki","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"06","key":"ref11","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1055\/s-0031-1291381","article-title":"Thrombocytopenia-absent radius syndrome","volume":"37","author":"H V Toriello","year":"2011","journal-title":"Semin Thromb Hemost"},{"issue":"03","key":"ref12","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/ajmg.b.32427","article-title":"Reinforcing the association between distal 1q CNVs and structural brain disorder: a case of a complex 1q43-q44 CNV and a review of the literature","volume":"171B","author":"I A Hemming","year":"2016","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref13","doi-asserted-by":"crossref","DOI":"10.1159\/isbn.978-3-318-06867-2","volume-title":"An International System for Human Cytogenetic Nomenclature (ISCN) 2020","author":"J McGowan-Jordan","year":"2020"},{"issue":"02","key":"ref14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"E R Riggs","year":"2020","journal-title":"Genetics Med"},{"issue":"03","key":"ref15","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1038\/ejhg.2009.174","article-title":"Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12","volume":"18","author":"S C Nagamani","year":"2010","journal-title":"Eur J Hum Genet"},{"issue":"04","key":"ref16","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1016\/j.bbrc.2005.04.064","article-title":"Signaling through disabled 1 requires phosphoinositide binding","volume":"331","author":"Y Huang","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"ref17","first-page":"122","article-title":"New insights into reelin-mediated signaling pathways","volume":"10","author":"G H Lee","year":"2016","journal-title":"Front Cell Neurosci"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.neuropharm.2012.08.015","article-title":"The involvement of Reelin in neurodevelopmental disorders","volume":"68","author":"T D Folsom","year":"2013","journal-title":"Neuropharmacology"},{"issue":"06","key":"ref19","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1055\/s-0039-1694797","article-title":"Identification of copy number variation by array-CGH in Portuguese children and adolescents diagnosed with autism spectrum disorders","volume":"50","author":"S Monteiro","year":"2019","journal-title":"Neuropediatrics"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources","volume":"84","author":"H V Firth","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"12","key":"ref21","doi-asserted-by":"crossref","first-page":"e82810","DOI":"10.1371\/journal.pone.0082810","article-title":"An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability","volume":"8","author":"M Falcone","year":"2013","journal-title":"PLoS One"},{"issue":"02","key":"ref22","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1111\/epi.12050","article-title":"West syndrome caused by ST3Gal-III deficiency","volume":"54","author":"S Edvardson","year":"2013","journal-title":"Epilepsia"},{"issue":"01","key":"ref23","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2013.05.015","article-title":"Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy","volume":"93","author":"A K Arndt","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"04","key":"ref24","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng.1083","article-title":"Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome","volume":"44","author":"C A Albers","year":"2012","journal-title":"Nat Genet"},{"issue":"04","key":"ref25","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1111\/bjh.14913","article-title":"Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome","volume":"179","author":"G Manukjan","year":"2017","journal-title":"Br J Haematol"},{"issue":"04","key":"ref26","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/gim.2015.78","article-title":"Clinical phenotype of the recurrent 1q21.1 copy-number variant","volume":"18","author":"R Bernier","year":"2016","journal-title":"Genet Med"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1126\/science.1177321","article-title":"Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1","volume":"325","author":"D Ahel","year":"2009","journal-title":"Science"},{"issue":"05","key":"ref28","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2017.09.008","article-title":"High rate of recurrent de novo mutations in developmental and epileptic encephalopathies","volume":"101","author":"F F Hamdan","year":"2017","journal-title":"Am J Hum Genet"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nature08727","article-title":"A new highly penetrant form of obesity due to deletions on chromosome 16p11.2","volume":"463","author":"R G Walters","year":"2010","journal-title":"Nature"},{"issue":"03","key":"ref30","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jmg.2009.069369","article-title":"Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder","volume":"47","author":"B A Fernandez","year":"2010","journal-title":"J Med Genet"},{"issue":"25","key":"ref31","doi-asserted-by":"crossref","first-page":"8248","DOI":"10.1523\/JNEUROSCI.5287-08.2009","article-title":"NOS1AP regulates dendrite patterning of hippocampal neurons through a carboxypeptidase E-mediated pathway","volume":"29","author":"D Carrel","year":"2009","journal-title":"J Neurosci"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13039-020-00490-6","article-title":"Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome","volume":"13","author":"M C Bonaglia","year":"2020","journal-title":"Mol Cytogenet"},{"issue":"02","key":"ref33","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ejmg.2012.11.003","article-title":"Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder","volume":"56","author":"A K Petersen","year":"2013","journal-title":"Eur J Med Genet"},{"issue":"03","key":"ref34","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1006\/bbrc.1999.0559","article-title":"Identification of a human Akt3 (protein kinase B gamma) which contains the regulatory serine phosphorylation site","volume":"257","author":"K Nakatani","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"issue":"01","key":"ref35","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1002\/ajmg.a.36710","article-title":"Phenotypes of AKT3 deletion: a case report and literature review","volume":"167A","author":"D Gai","year":"2015","journal-title":"Am J Med Genet A"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0042-1754162.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T23:45:14Z","timestamp":1662421514000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0042-1754162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,14]]},"references-count":35,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2022,9,5]]},"published-print":{"date-parts":[[2022,8]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0042-1754162","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"type":"print","value":"0174-304X"},{"type":"electronic","value":"1439-1899"}],"subject":[],"published":{"date-parts":[[2022,7,14]]}}}