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

Resultado de la investigación: Contribución a RevistaArtículo

33 Citas (Scopus)

Resumen

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. © 2011 Elsevier Masson SAS.
Idioma originalEnglish (US)
Páginas (desde-hasta)306-309
Número de páginas4
PublicaciónEuropean Journal of Medical Genetics
DOI
EstadoPublished - may 1 2011

Huella dactilar

Heart Septal Defects
Mutation
Congenital Heart Defects
Genes
Formaldehyde
GATA4 Transcription Factor

Citar esto

Salazar, Marleny ; Consoli, Federica ; Villegas, Victoria ; Caicedo, Victor ; Maddaloni, Valeria ; Daniele, Paola ; Caianiello, Giuseppe ; Pachón, Sonia ; Nuñez, Federico ; Limongelli, Giuseppe ; Pacileo, Giuseppe ; Marino, Bruno ; Bernal, Jaime E. ; De Luca, Alessandro ; Dallapiccola, Bruno. / Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. En: European Journal of Medical Genetics. 2011 ; pp. 306-309.
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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. {\circledC} 2011 Elsevier Masson SAS.",
author = "Marleny Salazar and Federica Consoli and Victoria Villegas and Victor Caicedo and Valeria Maddaloni and Paola Daniele and Giuseppe Caianiello and Sonia Pach{\'o}n and Federico Nu{\~n}ez and Giuseppe Limongelli and Giuseppe Pacileo and Bruno Marino and Bernal, {Jaime E.} and {De Luca}, Alessandro and Bruno Dallapiccola",
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Salazar, M, Consoli, F, Villegas, V, Caicedo, V, Maddaloni, V, Daniele, P, Caianiello, G, Pachón, S, Nuñez, F, Limongelli, G, Pacileo, G, Marino, B, Bernal, JE, De Luca, A & Dallapiccola, B 2011, 'Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects', European Journal of Medical Genetics, pp. 306-309. https://doi.org/10.1016/j.ejmg.2011.01.004

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. / Salazar, Marleny; Consoli, Federica; Villegas, Victoria; Caicedo, Victor; Maddaloni, Valeria; Daniele, Paola; Caianiello, Giuseppe; Pachón, Sonia; Nuñez, Federico; Limongelli, Giuseppe; Pacileo, Giuseppe; Marino, Bruno; Bernal, Jaime E.; De Luca, Alessandro; Dallapiccola, Bruno.

En: European Journal of Medical Genetics, 01.05.2011, p. 306-309.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

AU - Salazar, Marleny

AU - Consoli, Federica

AU - Villegas, Victoria

AU - Caicedo, Victor

AU - Maddaloni, Valeria

AU - Daniele, Paola

AU - Caianiello, Giuseppe

AU - Pachón, Sonia

AU - Nuñez, Federico

AU - Limongelli, Giuseppe

AU - Pacileo, Giuseppe

AU - Marino, Bruno

AU - Bernal, Jaime E.

AU - De Luca, Alessandro

AU - Dallapiccola, Bruno

PY - 2011/5/1

Y1 - 2011/5/1

N2 - 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. © 2011 Elsevier Masson SAS.

AB - 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. © 2011 Elsevier Masson SAS.

U2 - 10.1016/j.ejmg.2011.01.004

DO - 10.1016/j.ejmg.2011.01.004

M3 - Article

C2 - 21276881

SP - 306

EP - 309

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

ER -