%0 Generic %A R.A.C., Monteiro %A de Freitas M.L. %A G.S., Vianna %A de Oliveira V.T. %A R.X., Pietra %A L.C.A., Ferreira %A P.P.O., Rocha %A da S. Gonçalves M. %A da C. César G. %A de S. Lima J. %A P.F.V., Medeiros %A J.F., Mazzeu %A F.S., Jehee %D 2017 %T Supplementary Material for: Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Major_Contribution_of_Genomic_Copy_Number_Variation_in_Syndromic_Congenital_Heart_Disease_The_Use_of_MLPA_as_the_First_Genetic_Test/5104252 %R 10.6084/m9.figshare.5104252.v1 %2 https://karger.figshare.com/ndownloader/files/8663011 %K Copy number variation %K Heart disease %K MLPA %K SLC2A3 %K SNP array %X

Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD. In total, 16 defects (34%) were identified, of which 12 (25.5%) were classified as pathogenic or probably pathogenic. The most frequent abnormalities were 22q11.2 deletion (22q11.2 deletion syndrome) and 7q11.23 deletion (Williams-Beuren syndrome). We also show that rarer malformations may be associated with syndromic CHD, such as 14q32.33 deletion as well as 17q25.3, 15q11.2 (BP1-BP2), 22q13.31, and 12p13.31 (SLC2A3) duplications. The present study demonstrates that CNVs are important causal factors and should be studied in patients with syndromic CHD. Furthermore, the use of MLPA as a first screening test was appropriate, as this less expensive technology detected 11 of the 12 pathogenic abnormalities (91.6%).

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