• Anatol J Cardiol · Jul 2018

    Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.

    • Esra Tuba Mutlu, Hayrettin Hakan Aykan, and Tevfik Karagöz.
    • Genetics Unit, Institute of Health Sciences, Faculty of Medicine, Hacettepe University; Ankara-Turkey. tubamd@yahoo.com.
    • Anatol J Cardiol. 2018 Jul 1; 20 (1): 9-15.

    ObjectiveAt the molecular and cellular levels, heart development entails the precise orchestration of genetic events such as the interplay of master transcriptional regulators, signaling pathways, and chromatin remodeling. Recent studies among patients with congenital heart disease (CHD) have shown the importance of recurrent copy number variations (CNVs) in a significant number of patients. Recurrent CNVs that span several genes may affect other important organs, besides the heart. Because CHD may be the first presenting symptom in such patients, the analysis of recurrent CNVs in the genomic regions containing genes associated with CHD in patients referring to cardiology clinics may lead to an early diagnosis and the treatment of extracardiac symptoms in these patients. In this study, we aimed to screen CNVs of genomic regions including GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes and to analyse the 22q11.2 chromosomal region in apparently nonsyndromic patients with cardiac septal defects.MethodsGenomic regions including GATA4, NKX2-5, TBX5, BMP4, and CRELD1 genes and the 22q11.2 chromosomal region were analyzed in apparently nonsyndromic 45 patients with cardiac septal defects using the MLPA P-311 A2 Congenital Heart Disease kit. Multiplex ligationdependent probe amplification (MLPA) is an established technique for the detection of known CNVs. MLPA is substantially less expensive than array CGH and is relatively simple to use for clinicians without specific expertise in genomic technology; thus, MLPA could be used as a first-tier screening assay.ResultsWe screened 45 patients with cardiac septal defects for CNVs using the MLPA P-311 A2 kit. We identified three CNVs (n=3/45, 6.66%) and three 22q11 deletions. The CNVs were confirmed using fluorescence in situ hybridization.ConclusionOur study confirmed that the analysis of recurrent CNVs using the MLPA assay within pediatric cardiology clinics can led to an early syndrome diagnosis in nonsyndromic patients with CHD.

      Pubmed     Free full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…