Open AccessDeletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects
Author(s) -
Sabrina Giglio,
Sharon Graw,
Giorgio Gimelli,
Barbara Pirola,
Paolo Varone,
Lucille Voullaire,
Franco Lerzo,
Elena Rossi,
Claudia Dellavecchia,
María Clara Bonaglia,
M. Cristina Digilio,
Aldo Giannotti,
Bruno Marino,
Romeo Carrozzo,
Julie R. Korenberg,
Cesare Danesino,
Eva Sujansky,
Bruno Dallapiccola,
Orsetta Zuffardi
Publication year - 2000
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/01.cir.102.4.432
Subject(s) - haploinsufficiency , medicine , atrioventricular canal , gata4 , heart development , telomere , pulmonary valve stenosis , fluorescence in situ hybridization , chromosome , atrioventricular septal defect , genetics , heart disease , cardiology , gene , biology , stenosis , phenotype , transcription factor , embryonic stem cell
Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect-critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs.
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