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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genomic imbalances in syndromic congenital heart disease,

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Author(s):
Miriam Coelho Molck [1] ; Milena Simioni [2] ; Társis Paiva Vieira [3] ; Ilária Cristina Sgardioli [4] ; Fabíola Paoli Monteiro [5] ; Josiane Souza [6] ; Agnes Cristina Fett-Conte [7] ; Têmis Maria Félix [8] ; Isabella Lopes Monlléo [9] ; Vera Lúcia Gil-da-Silva-Lopes [10]
Total Authors: 10
Affiliation:
[1] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
[2] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
[3] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
[4] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
[5] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
[6] Centro de Atendimento Integral ao Fissurado Lábio Palatal - Brasil
[7] Faculdade de Medicina de São José do Rio Preto. Departamento de Biologia Molecular - Brasil
[8] Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica - Brasil
[9] Universidade Federal de Alagoas. Hospital Universitário. Faculdade de Medicina - Brasil
[10] Universidade Estadual de Campinas. Departamento de Genética Médica - Brasil
Total Affiliations: 10
Document type: Journal article
Source: Jornal de Pediatria; v. 93, n. 5, p. 497-507, 2017-10-00.
Abstract

Abstract 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 ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb 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. (AU)

FAPESP's process: 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants