Post-mortem cytogenomic investigations in patients with congenital malformations

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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.authorDIAS, Alexandre Torchio
dc.contributor.authorZANARDO, Evelin Aline
dc.contributor.authorDUTRA, Roberta Lelis
dc.contributor.authorPIAZZON, Flavia Balbo
dc.contributor.authorNOVO-FILHO, Gil Monteiro
dc.contributor.authorMONTENEGRO, Marilia Moreira
dc.contributor.authorNASCIMENTO, Amom Mendes
dc.contributor.authorROCHA, Mariana
dc.contributor.authorMADIA, Fabricia Andreia Rosa
dc.contributor.authorCOSTA, Thais Virginia Moura Machado
dc.contributor.authorMILANI, Cintia
dc.contributor.authorSCHULTZ, Regina
dc.contributor.authorGONCALVES, Fernanda Toledo
dc.contributor.authorFRIDMAN, Cintia
dc.contributor.authorYAMAMOTO, Guilherme Lopes
dc.contributor.authorBERTOLA, Debora Romeo
dc.contributor.authorKIM, Chong Ae
dc.contributor.authorKULIKOWSKI, Leslie Domenici
dc.date.accessioned2016-10-17T16:38:32Z
dc.date.available2016-10-17T16:38:32Z
dc.date.issued2016
dc.description.abstractCongenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), micro satellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin -embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p1132); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C > G (c.746C > G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.
dc.description.indexMEDLINE
dc.description.sponsorshipFAPESP [53105/9]
dc.identifier.citationEXPERIMENTAL AND MOLECULAR PATHOLOGY, v.101, n.1, p.116-123, 2016
dc.identifier.doi10.1016/j.yexmp.2016.07.003
dc.identifier.eissn1096-0945
dc.identifier.issn0014-4800
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/16214
dc.language.isoeng
dc.publisherACADEMIC PRESS INC ELSEVIER SCIENCE
dc.relation.ispartofExperimental and Molecular Pathology
dc.rightsrestrictedAccess
dc.rights.holderCopyright ACADEMIC PRESS INC ELSEVIER SCIENCE
dc.subjectCongenital malformations
dc.subjectPost-mortem cytogenomic investigation
dc.subjectDNA copy number variations
dc.subject.othermissense fgfr3 mutations
dc.subject.othermiller-dieker-syndrome
dc.subject.otherthymidylate synthase
dc.subject.othermice deficient
dc.subject.othergene hic1
dc.subject.othermosaicism
dc.subject.otherexpression
dc.subject.othersequence
dc.subject.otherdeletion
dc.subject.otherdefects
dc.subject.wosPathology
dc.titlePost-mortem cytogenomic investigations in patients with congenital malformations
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalMADIA, Fabricia Andreia Rosa:Univ Sao Paulo, Dept Pathol, Cytogen Lab, LIM HC FMUSP 03, Sao Paulo, SP, Brazil
hcfmusp.citation.scopus4
hcfmusp.contributor.author-fmusphcALEXANDRE TORCHIO DIAS
hcfmusp.contributor.author-fmusphcEVELIN ALINE ZANARDO
hcfmusp.contributor.author-fmusphcROBERTA LELIS DUTRA
hcfmusp.contributor.author-fmusphcFLAVIA BALBO PIAZZON
hcfmusp.contributor.author-fmusphcGIL MONTEIRO NOVO FILHO
hcfmusp.contributor.author-fmusphcMARILIA MOREIRA MONTENEGRO
hcfmusp.contributor.author-fmusphcAMOM MENDES NASCIMENTO
hcfmusp.contributor.author-fmusphcMARIANA ROCHA
hcfmusp.contributor.author-fmusphcTHAIS VIRGINIA MOURA MACHADO COSTA
hcfmusp.contributor.author-fmusphcCINTIA MILANI
hcfmusp.contributor.author-fmusphcREGINA SCHULTZ
hcfmusp.contributor.author-fmusphcFERNANDA DE TOLEDO GONCALVES
hcfmusp.contributor.author-fmusphcCINTIA FRIDMAN RAVE
hcfmusp.contributor.author-fmusphcGUILHERME LOPES YAMAMOTO
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcLESLIE DOMENICI KULIKOWSKI
hcfmusp.description.beginpage116
hcfmusp.description.endpage123
hcfmusp.description.issue1
hcfmusp.description.volume101
hcfmusp.origemWOS
hcfmusp.origem.pubmed27450648
hcfmusp.origem.scopus2-s2.0-84979879959
hcfmusp.origem.wosWOS:000382416000016
hcfmusp.publisher.citySAN DIEGO
hcfmusp.publisher.countryUSA
hcfmusp.relation.referenceAngeloni D, 1999, AM J MED GENET, V86, P482, DOI 10.1002/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L
hcfmusp.relation.referenceBi WM, 2002, GENOME RES, V12, P713, DOI 10.1101/gr.73702
hcfmusp.relation.referenceBianco B, 2006, J PEDIATR ENDOCR MET, V19, P1113
hcfmusp.relation.referenceBiesecker LG, 2013, NAT REV GENET, V14, P307, DOI 10.1038/nrg3424
hcfmusp.relation.referenceCarter MG, 2000, HUM MOL GENET, V9, P413, DOI 10.1093/hmg/9.3.413
hcfmusp.relation.referenceChristofolini DM, 2010, J INTELL DISABIL RES, V54, P938, DOI 10.1111/j.1365-2788.2010.01325.x
hcfmusp.relation.referenceCuoco C, 2011, ORPHANET J RARE DIS, V6, DOI 10.1186/1750-1172-6-12
hcfmusp.relation.referenceDavanageri Reshma S, 2014, J Lab Physicians, V6, P121, DOI 10.4103/0974-2727.141513
hcfmusp.relation.referenceCosta LSD, 2015, MOL CYTOGENET, V8, DOI 10.1186/s13039-015-0142-7
hcfmusp.relation.referenceDutra Roberta L, 2012, BMC Res Notes, V5, P13, DOI 10.1186/1756-0500-5-13
hcfmusp.relation.referenceFilges I, 2011, FERTIL STERIL, V96, P851, DOI 10.1016/j.fertnstert.2011.07.1137
hcfmusp.relation.referenceGniady JP, 2010, INT J PEDIATR OTORHI, V74, P1193, DOI 10.1016/j.ijporl.2010.07.006
hcfmusp.relation.referenceGrimm C, 1999, HUM MOL GENET, V8, P697, DOI 10.1093/hmg/8.4.697
hcfmusp.relation.referenceHalushka MK, 2005, AM J MED GENET A, V135A, P181, DOI 10.1002/ajmg.a.30730
hcfmusp.relation.referenceHughes-Stamm SR, 2011, INT J LEGAL MED, V125, P341, DOI 10.1007/s00414-010-0455-3
hcfmusp.relation.referenceJugessur A, 2010, PLOS ONE, V5, DOI 10.1371/journal.pone.0011493
hcfmusp.relation.referenceKawakami K, 2001, CLIN CANCER RES, V7, P4096
hcfmusp.relation.referenceKoide K, 2011, HUM GENET, V129, P295, DOI 10.1007/s00439-010-0923-3
hcfmusp.relation.referenceLi Z, 2015, MEDICINE, V94, DOI 10.1097/MD.0000000000000705
hcfmusp.relation.referenceLyle R, 2009, EUR J HUM GENET, V17, P454, DOI 10.1038/ejhg.2008.214
hcfmusp.relation.referenceMontag-Sallaz M, 2002, MOL CELL BIOL, V22, P7967, DOI 10.1128/MCB.22.22.7967-7981.2002
hcfmusp.relation.referencePannier S, 2009, AM J MED GENET A, V149A, P1296, DOI 10.1002/ajmg.a.32880
hcfmusp.relation.referencePINKEL D, 1986, P NATL ACAD SCI USA, V83, P2934, DOI 10.1073/pnas.83.9.2934
hcfmusp.relation.referenceReynolds CA, 2010, HUM MOL GENET, V19, P2068, DOI 10.1093/hmg/ddq079
hcfmusp.relation.referenceRousseau F, 1996, HUM MOL GENET, V5, P509, DOI 10.1093/hmg/5.4.509
hcfmusp.relation.referenceSouthard AE, 2012, PEDIATRICS, V129, P755, DOI 10.1542/peds.2011-2337
hcfmusp.relation.referenceStankiewicz P, 2010, ANNU REV MED, V61, P437, DOI 10.1146/annurev-med-100708-204735
hcfmusp.relation.referenceTrinh BN, 2002, HUM GENET, V111, P299, DOI 10.1007/s00439-002-0779-2
hcfmusp.relation.referencevan Veghel-Plandsoen MM, 2011, EUR J HUM GENET, V19, P1009, DOI 10.1038/ejhg.2011.60
hcfmusp.relation.referenceWapner RJ, 2010, PRENATAL DIAG, V30, P704, DOI 10.1002/pd.2468
hcfmusp.relation.referenceWeiner AS, 2012, PRENATAL DIAG, V32, P1041, DOI 10.1002/pd.3952
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