Jaime E Bernal

Publications (2)1.57 Total impact

• Article: [Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease].

  Marleny Salazar, Guiovanny Villalba, Heidi Mateus, Victoria Villegas, Dora Fonseca, Federico Núñez, Víctor Caicedo, Sonia Pachón, Jaime E Bernal
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  ABSTRACT: Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.
  Investigación clínica 12/2011; 52(4):334-43.
• Article: Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

  Marleny Salazar, Federica Consoli, Victoria Villegas, Victor Caicedo, Valeria Maddaloni, Paola Daniele, Giuseppe Caianiello, Sonia Pachón, Federico Nuñez, Giuseppe Limongelli, Giuseppe Pacileo, Bruno Marino, Jaime E Bernal, Alessandro De Luca, Bruno Dallapiccola
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  ABSTRACT: High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of these congenital heart defects (CHDs). However, all somatic mutations have been identified in DNA extracted from an archive of formalin-fixed cardiac tissues. In the present study, to address the hypothesis that somatic mutations are important in isolated CHDs, we analyzed the GATA4 and NKX2.5 genes in the fresh-frozen pathologic cardiac tissue specimen and corresponding non-diseased tissue obtained from a series of 62 CHD patients, including 35 patients with cardiac septal defects and 27 with other cardiac anomalies. We identified one variant and two common polymorphisms in the NKX2.5 gene, and six variants and two common polymorphisms in the GATA4 gene. All identified variants were seen in both the fresh-frozen pathologic cardiac tissue and the corresponding non-diseased tissue, which indicates that they all were constitutional variants. The present study has identified NKX2.5 and GATA4 constitutional variants in our CHD cohort, but was unable to replicate the previously published findings of high prevalence of somatically derived sequence mutations in patients with cardiac septal defects using fresh-frozen cardiac tissues rather than formalin-fixed tissues.
  European journal of medical genetics 01/2011; 54(3):306-9. · 1.57 Impact Factor