PMID- 28336264
OWN - NLM
STAT- MEDLINE
DCOM- 20171113
LR  - 20200413
IS  - 1678-4782 (Electronic)
IS  - 0021-7557 (Linking)
VI  - 93
IP  - 5
DP  - 2017 Sep-Oct
TI  - Genomic imbalances in syndromic congenital heart disease.
PG  - 497-507
LID - S0021-7557(17)30218-8 [pii]
LID - 10.1016/j.jped.2016.11.007 [doi]
AB  - OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting 
      congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 
      22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 
      22q11.2 deletion, previously screened by fluorescence in situ hybridization 
      (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by 
      chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy 
      number variations (CNVs >/=300kb) were identified in 10% (8/78) of cases. In 
      addition, potentially relevant CNVs were detected in two cases (993kb duplication 
      in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found 
      in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, 
      SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and 
      could be candidate genes for CHD. CONCLUSION: These data showed that patients 
      presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be 
      investigated by CMA. The present study emphasizes the possible role of CNVs in 
      CHD.
CI  - Copyright (c) 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora 
      Ltda. All rights reserved.
FAU - Molck, Miriam Coelho
AU  - Molck MC
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil.
FAU - Simioni, Milena
AU  - Simioni M
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil.
FAU - Paiva Vieira, Tarsis
AU  - Paiva Vieira T
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil.
FAU - Sgardioli, Ilaria Cristina
AU  - Sgardioli IC
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil.
FAU - Paoli Monteiro, Fabiola
AU  - Paoli Monteiro F
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil.
FAU - Souza, Josiane
AU  - Souza J
AD  - Centro de Atendimento Integral ao Fissurado Labio Palatal (CAIF), Curitiba, PR, 
      Brazil.
FAU - Fett-Conte, Agnes Cristina
AU  - Fett-Conte AC
AD  - Faculdade de Medicina de Sao Jose do Rio Preto, Departamento de Biologia 
      Molecular, Sao Jose do Rio Preto, SP, Brazil.
FAU - Felix, Temis Maria
AU  - Felix TM
AD  - Hospital de Clinicas de Porto Alegre, Servico de Genetica Medica, Porto Alegre, 
      RS, Brazil.
FAU - Lopes Monlleo, Isabella
AU  - Lopes Monlleo I
AD  - Universidade Federal de Alagoas (UFAL), Hospital Universitario, Faculdade de 
      Medicina, Servico de Genetica Clinica, Maceio, AL, Brazil.
FAU - Gil-da-Silva-Lopes, Vera Lucia
AU  - Gil-da-Silva-Lopes VL
AD  - Universidade Estadual de Campinas (UNICAMP), Departamento de Genetica Medica, 
      Campinas, SP, Brazil. Electronic address: vlopes@fcm.unicamp.br.
LA  - eng
PT  - Journal Article
DEP - 20170321
PL  - Brazil
TA  - J Pediatr (Rio J)
JT  - Jornal de pediatria
JID - 2985188R
SB  - IM
MH  - Adult
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DNA Copy Number Variations/*genetics
MH  - Female
MH  - Genomics
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - Infant
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis
OTO - NOTNLM
OT  - 22q11 deletion syndrome
OT  - Aberracoes cromossomicas
OT  - Cardiopatias congenitas
OT  - Chromosome aberrations
OT  - Comparative genomic hybridization
OT  - Congenital heart defects
OT  - DNA copy number variations
OT  - Hibridizacao genomica comparativa
OT  - Sindrome de delecao 22q11
OT  - Variacoes do numero de copias de DNA
EDAT- 2017/03/25 06:00
MHDA- 2017/11/14 06:00
CRDT- 2017/03/25 06:00
PHST- 2016/07/27 00:00 [received]
PHST- 2016/11/21 00:00 [revised]
PHST- 2016/11/21 00:00 [accepted]
PHST- 2017/03/25 06:00 [pubmed]
PHST- 2017/11/14 06:00 [medline]
PHST- 2017/03/25 06:00 [entrez]
AID - S0021-7557(17)30218-8 [pii]
AID - 10.1016/j.jped.2016.11.007 [doi]
PST - ppublish
SO  - J Pediatr (Rio J). 2017 Sep-Oct;93(5):497-507. doi: 10.1016/j.jped.2016.11.007. 
      Epub 2017 Mar 21.