Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/27591
DC FieldValueLanguage
dc.contributor.authorPires, Renato-
dc.contributor.authorPires, Luís M.-
dc.contributor.authorVaz, Sara O.-
dc.contributor.authorMaciel, Paula-
dc.contributor.authorAnjos, Rui-
dc.contributor.authorMoniz, Raquel-
dc.contributor.authorBranco, Claudia C.-
dc.contributor.authorCabral, Rita-
dc.contributor.authorCarreira, Isabel M.-
dc.contributor.authorMota-Vieira, Luisa-
dc.date.accessioned2014-11-12T12:02:26Z-
dc.date.available2014-11-12T12:02:26Z-
dc.date.issued2014-
dc.identifier.citationPIRES, Renato [et. al] - Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication. "BMC Genetics". ISSN 1471-2156. Vol. 15 (2014)por
dc.identifier.issn1471-2156-
dc.identifier.urihttps://hdl.handle.net/10316/27591-
dc.description.abstractBackground The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were searched using multiplex ligation-dependent probe amplification (MLPA). In patients with CNVs, we additionally performed fluorescent in situ hybridization (FISH) for the assessment of the exact number of 22q11.2 copies among each chromosome, and array comparative genomic hybridization (array-CGH) for the determination of the exact length of CNVs. Results We found that four patients (4.6%; A to D) carried CNVs. Patients A and D, both affected with a ventricular septal defect, carried a de novo 2.5 Mb deletion of the 22q11.2 region, which was probably originated by inter-chromosomal (inter-chromatid) non-allelic homologous recombination (NAHR) events in the regions containing low-copy repeats (LCRs). Patient C, with an atrial septal defect, carried a de novo 2.5 Mb duplication of 22q11.2 region, which could have been probably generated during gametogenesis by NAHR or by unequal crossing-over; additionally, this patient presented a benign 288 Kb duplication, which included the TOP3B gene inherited from her healthy mother. Finally, patient B showed a 3 Mb triplication associated with dysmorphic facial features, cognitive deficit and heart defects, a clinical feature not reported in the only case described so far in the literature. The evaluation of patient B’s parents revealed a 2.5 Mb duplication in her father, suggesting a paternal inheritance with an extra copy. Conclusions This report allowed the identification of rare deletion and microduplication syndromes in Azorean CHD patients. Moreover, we report the second patient with a 22q11.2 triplication, and we suggest that patients with triplications of chromosome 22q11.2, although they share some characteristic features with the deletion and microduplication syndromes, present a more severe phenotype probably due to the major dosage of implicated genes.por
dc.language.isoengpor
dc.publisherBioMed Central Ltdpor
dc.rightsopenAccesspor
dc.subjectCongenital heart diseasepor
dc.subject22q11.2 deletionpor
dc.subject22q11.2 microduplicationpor
dc.subject22q11.2 triplicationpor
dc.titleScreening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplicationpor
dc.typearticlepor
degois.publication.titleBMC Geneticspor
dc.relation.publisherversionhttp://www.biomedcentral.com/1471-2156/15/115por
dc.peerreviewedYespor
dc.identifier.doi10.1186/s12863-014-0115-6-
degois.publication.volume15por
uc.controloAutoridadeSim-
item.openairetypearticle-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
item.fulltextCom Texto completo-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0001-6842-1707-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
Files in This Item:
File Description SizeFormat
Screening of copy number variants in the 22q11.2.pdf2.36 MBAdobe PDFView/Open
Show simple item record

SCOPUSTM   
Citations

9
checked on Nov 9, 2022

WEB OF SCIENCETM
Citations 10

11
checked on Mar 2, 2024

Page view(s)

356
checked on Mar 26, 2024

Download(s) 50

367
checked on Mar 26, 2024

Google ScholarTM

Check

Altmetric

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.