Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorTOLEZANO, Giovanna Cantini
dc.contributor.authorBASTOS, Giovanna Civitate
dc.contributor.authorCOSTA, Silvia Souza da
dc.contributor.authorFREIRE, Bruna Lucheze
dc.contributor.authorHOMMA, Thais Kataoka
dc.contributor.authorHONJO, Rachel Sayuri
dc.contributor.authorYAMAMOTO, Guilherme Lopes
dc.contributor.authorPASSOS-BUENO, Maria Rita
dc.contributor.authorKOIFFMANN, Celia Priszkulnik
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorVIANNA-MORGANTE, Angela Maria
dc.contributor.authorJORGE, Alexander Augusto de Lima
dc.contributor.authorBERTOLA, Debora Romeo
dc.contributor.authorROSENBERG, Carla
dc.contributor.authorKREPISCHI, Ana Cristina Victorino
dc.date.accessioned2024-04-05T19:33:59Z
dc.date.available2024-04-05T19:33:59Z
dc.date.issued2024
dc.description.abstractMicrocephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review genes and CNV syndromes associated with microcephaly. We performed chromosomal microarray analysis (CMA) in 185 Brazilian patients with microcephaly and evaluated microcephalic patients carrying < 200 kb CNVs documented in the DECIPHER database. Additionally, we reviewed known genes and CNV syndromes causally linked to microcephaly through the PubMed, OMIM, DECIPHER, and ClinGen databases. Rare clinically relevant CNVs were detected in 39 out of the 185 Brazilian patients investigated by CMA (21%). In 31 among the 60 DECIPHER patients carrying < 200 kb CNVs, at least one known microcephaly gene was observed. Overall, four gene sets implicated in microcephaly were disclosed: known microcephaly genes; genes with supporting evidence of association with microcephaly; known macrocephaly genes; and novel candidates, including OTUD7A, BBC3, CNTN6, and NAA15. In the review, we compiled 957 known microcephaly genes and 58 genomic CNV loci, comprising 13 duplications and 50 deletions, which have already been associated with clinical findings including microcephaly. We reviewed genes and CNV syndromes previously associated with microcephaly, reinforced the high CMA diagnostic yield for this condition, pinpointed novel candidate loci linked to microcephaly deserving further evaluation, and provided a useful resource for future research on the field of neurodevelopment.eng
dc.description.indexMEDLINE
dc.description.indexPubMed
dc.description.indexScopus
dc.description.indexDimensions
dc.description.indexWoS
dc.description.sponsorshipSao Paulo Research Foundation ([FAPESP]) [2013/080828-1, 2020/15552-2]
dc.description.sponsorshipNational Council for Scientific and Technological Development ([CNPq]) [157816/20184, 305806/2019-0, 140271/2020-1, 303294/2020-5, 303375/2019-1]
dc.identifier.citationJOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, v.54, n.3, p.1181-1212, 2024
dc.identifier.doi10.1007/s10803-022-05853-z
dc.identifier.eissn1573-3432
dc.identifier.issn0162-3257
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/58948
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERSeng
dc.relation.ispartofJournal of Autism and Developmental Disorders
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright SPRINGER/PLENUM PUBLISHERSeng
dc.subjectCMAeng
dc.subjectCNVeng
dc.subjectMicrocephalyeng
dc.subjectNeurodevelopmental disorderseng
dc.subjectOTUD7Aeng
dc.subjectBBC3eng
dc.subjectCNTN6eng
dc.subjectNAA15eng
dc.subject.othercongenital heart-diseaseeng
dc.subject.otherintellectual disabilityeng
dc.subject.otherchromosomal microarrayeng
dc.subject.othermicrodeletion syndromeeng
dc.subject.otherarray-cgheng
dc.subject.otherphenotypeeng
dc.subject.otherdeletioneng
dc.subject.otherduplicationeng
dc.subject.othermutationseng
dc.subject.othergeneseng
dc.subject.wosPsychology, Developmentaleng
dc.titleBurden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literatureeng
dc.typearticleeng
dc.type.categoryrevieweng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalTOLEZANO, Giovanna Cantini:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalBASTOS, Giovanna Civitate:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalCOSTA, Silvia Souza da:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalHOMMA, Thais Kataoka:Univ Sao Paulo, Unidade Endocrinol Genet LIM25, Hosp Clin, Fac Med, 455 Ave Doutor Arnaldo, BR-01246903 Sao Paulo, SP, Brazil
hcfmusp.author.externalPASSOS-BUENO, Maria Rita:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalKOIFFMANN, Celia Priszkulnik:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalVIANNA-MORGANTE, Angela Maria:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalROSENBERG, Carla:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.author.externalKREPISCHI, Ana Cristina Victorino:Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, 106 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil; Univ Sao Paulo, Inst Biosci, 277 Rua Matao, BR-05508090 Sao Paulo, SP, Brazil
hcfmusp.citation.scopus2
hcfmusp.contributor.author-fmusphcBRUNA LUCHEZE FREIRE
hcfmusp.contributor.author-fmusphcRACHEL SAYURI HONJO KAWAHIRA
hcfmusp.contributor.author-fmusphcGUILHERME LOPES YAMAMOTO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcALEXANDER AUGUSTO DE LIMA JORGE
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.description.beginpage1181
hcfmusp.description.endpage1212
hcfmusp.description.issue3
hcfmusp.description.volume54
hcfmusp.origemWOS
hcfmusp.origem.dimensionspub.1153566250
hcfmusp.origem.pubmed36502452
hcfmusp.origem.scopus2-s2.0-85143684107
hcfmusp.origem.wosWOS:000897709000001
hcfmusp.publisher.cityNEW YORKeng
hcfmusp.publisher.countryUSAeng
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