Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease
| Autor: | Valentina, Guida, Francesca, Lepri, Raymon, Vijzelaar, Andrea, De Zorzi, Versacci, Paolo, Maria, Cristina Digilio, MARINO TAUSSIG DE BODONIA, Bruno, Alessandro, De Luca, Bruno, Dallapiccola |
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| Rok vydání: | 2010 |
| Předmět: |
Heart Defects
Congenital endocrine system congenital hereditary and neonatal diseases and abnormalities Clinical Biochemistry CNV Gene Dosage cnv mlpa chd gata4 Polymerase Chain Reaction Cohort Studies GATA4 Genetics Humans Molecular Biology lcsh:R5-920 Biochemistry (medical) Genetic Variation General Medicine DNA Exons Syndrome respiratory system GATA4 Transcription Factor MLPA CHD embryonic structures Mutation cardiovascular system Other lcsh:Medicine (General) Oligonucleotide Probes Nucleic Acid Amplification Techniques |
| Zdroj: | Disease markers Disease Markers, Vol 28, Iss 5, Pp 287-292 (2010) |
| ISSN: | 1875-8630 |
| Popis: | GATA4mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition,GATA4is 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 ofGATA4copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence ofGATA4gene 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 withGATA4gene mutations. The patients were mutation-negative forGATA4,NKX2.5, andFOG2genes 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 ofGATA4gene CNVs in CHD pathogenesis. |
| Databáze: | OpenAIRE |
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