title: [Genetic screening of Gata4 and Nkx2.5 mutations in hereditary congenital heart defects: 5 familial cases].
abstract: Single gene mutations in Gata4 and Nkx2.5 genes have been identified as a causative factor for various clinical forms of hereditary congenital heart diseases (CHDs), especially for cardiac septal defects. However, the role of Gata4 and Nkx2.5 mutations in familial CHD is not clear yet. We report 5 cases of familial CHD with a positive history of cardiac septal defects. Our data suggest that mutations of either the Gata4 or Nkx2.5 genes are very uncommonly found in familial cases of CHD, supporting the genetic heterogeneity of cardiac congenital defects and the limitation of genetic testing in clinical setting.
authors.affiliation: Silvia Pulignani, Ilenia Foffa, Monica Cresci, Simona Vittorini, Lamia Ait-Alì, Maria Grazia Andreassi.
authors.forename: Silvia
authors.initials: S
authors.lastname: Pulignani
authors.forename: Ilenia
authors.initials: I
authors.lastname: Foffa
authors.forename: Monica
authors.initials: M
authors.lastname: Cresci
authors.forename: Simona
authors.initials: S
authors.lastname: Vittorini
authors.forename: Lamia
authors.initials: L
authors.lastname: Ait-Ali
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Andreassi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors