Genomic imbalances in syndromic congenital heart disease

Author(s)

Molck, Miriam Coelho ^[1] ; Simioni, Milena ^[1] ; Vieira, Tarsis Paiva ^[1] ; Sgardioli, Ilaria Cristina ^[1] ; Monteiro, Fabiola Paoli ^[1] ; Souza, Josiane ^[2] ; Fett-Conte, Agnes Cristina ^[3] ; Felix, Temis Maria ^[4] ; Monlleo, Isabella Lopes ^[5] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Affiliation

^[1] Univ Estadual Campinas UNICAMP, Dept Genet Med, Campinas, SP - Brazil

^[2] Ctr Atendimento Integral Fissurado Labio Palatal, Curitiba, Parana - Brazil

^[3] Fac Med Sao Jose do Rio Preto, Dept Biol Mol, Sao Jose Do Rio Preto, SP - Brazil

^[4] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS - Brazil

^[5] Univ Fed Alagoas UFAL, Hosp Univ, Fac Med, Serv Genet Clin, Maceio, AL - Brazil

• Document type: Journal article
• Source: Jornal de Pediatria; v. 93, n. 5, p. 497-507, SEP-OCT 2017.
• Web of Science Citations: 6

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. (C) 2017 Sociedade Brasileira de Pediatria. (AU)

• 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 Opportunities: Regular Research Grants
• FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants
• 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 Opportunities: Regular Research Grants