| Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. | |
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MedLine Citation:
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PMID: 20592452 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis. |
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Authors:
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Valentina Guida; Francesca Lepri; Raymon Vijzelaar; Andrea De Zorzi; Paolo Versacci; Maria Cristina Digilio; Bruno Marino; Alessandro De Luca; Bruno Dallapiccola |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Disease markers Volume: 28 ISSN: 1875-8630 ISO Abbreviation: Dis. Markers Publication Date: 2010 |
Date Detail:
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Created Date: 2010-07-01 Completed Date: 2010-10-05 Revised Date: 2010-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8604127 Medline TA: Dis Markers Country: Netherlands |
Other Details:
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Languages: eng Pagination: 287-92 Citation Subset: IM |
Affiliation:
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Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Rome, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cohort Studies DNA / genetics Exons / genetics GATA4 Transcription Factor / genetics* Gene Dosage* Genetic Variation / genetics* Heart Defects, Congenital / genetics*, pathology* Humans Mutation / genetics Nucleic Acid Amplification Techniques* Oligonucleotide Probes Polymerase Chain Reaction Syndrome |
| Chemical | |
Reg. No./Substance:
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0/GATA4 Transcription Factor; 0/GATA4 protein, human; 0/Oligonucleotide Probes; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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