Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

Orsolya Nagy, Katalin Szakszon, Brigitta Orsolya Biró, Gábor Mogyorósy, Dóra Nagy, Bálint Nagy, I. Balogh, Anikó Ujfalusi

Research output: Contribution to journalArticle

Abstract

Congenital heart diseases (CHDs)are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs)have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA)and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%)syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.

Original languageEnglish
Pages (from-to)86-95
Number of pages10
JournalJournal of Biotechnology
Volume299
DOIs
Publication statusPublished - Jun 20 2019

Fingerprint

Multiplex Polymerase Chain Reaction
Microarrays
Amplification
Heart Diseases
Microarray Analysis
Parturition
Genes
Phenotype

Keywords

  • Congenital heart disease
  • Copy number variants
  • Microarray
  • MLPA

ASJC Scopus subject areas

  • Biotechnology
  • Bioengineering
  • Applied Microbiology and Biotechnology

Cite this

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases. / Nagy, Orsolya; Szakszon, Katalin; Biró, Brigitta Orsolya; Mogyorósy, Gábor; Nagy, Dóra; Nagy, Bálint; Balogh, I.; Ujfalusi, Anikó.

In: Journal of Biotechnology, Vol. 299, 20.06.2019, p. 86-95.

Research output: Contribution to journalArticle

Nagy, Orsolya ; Szakszon, Katalin ; Biró, Brigitta Orsolya ; Mogyorósy, Gábor ; Nagy, Dóra ; Nagy, Bálint ; Balogh, I. ; Ujfalusi, Anikó. / Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases. In: Journal of Biotechnology. 2019 ; Vol. 299. pp. 86-95.
@article{c45cea0d220c45a49490c90d2fde0045,
title = "Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases",
abstract = "Congenital heart diseases (CHDs)are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs)have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA)and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21{\%})syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.",
keywords = "Congenital heart disease, Copy number variants, Microarray, MLPA",
author = "Orsolya Nagy and Katalin Szakszon and Bir{\'o}, {Brigitta Orsolya} and G{\'a}bor Mogyor{\'o}sy and D{\'o}ra Nagy and B{\'a}lint Nagy and I. Balogh and Anik{\'o} Ujfalusi",
year = "2019",
month = "6",
day = "20",
doi = "10.1016/j.jbiotec.2019.04.025",
language = "English",
volume = "299",
pages = "86--95",
journal = "Journal of Biotechnology",
issn = "0168-1656",
publisher = "Elsevier",

}

TY - JOUR

T1 - Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases

AU - Nagy, Orsolya

AU - Szakszon, Katalin

AU - Biró, Brigitta Orsolya

AU - Mogyorósy, Gábor

AU - Nagy, Dóra

AU - Nagy, Bálint

AU - Balogh, I.

AU - Ujfalusi, Anikó

PY - 2019/6/20

Y1 - 2019/6/20

N2 - Congenital heart diseases (CHDs)are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs)have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA)and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%)syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.

AB - Congenital heart diseases (CHDs)are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs)have been reported in the pathogenesis of CHD. The aim of this study was to evaluate the clinical utility of multiplex ligation-dependent probe amplification (MLPA)and microarray analyses on isolated and syndromic CHD cases and to explore the relationship between identified CNVs and CHD. Eighteen prenatal samples, 16 isolated and 33 syndromic patients with mild to severe CHD phenotype were tested. Prenatal and isolated CHD cases did not show pathogenic CNVs. Clinically significant CNVs were detected in 7/33 (21%)syndromic CHD patients: del 22q11.2 (n = 2), 8p23.1 duplication (n = 2), deletion 5p (n = 1), deletion 6q21q22 (n = 1), unbalanced translocation causing partial deletion of 4q34.3 and duplication of 6q25.1 (n = 1). These genomic imbalances contain genes that has been associated with human CHD before. The present study demonstrates that using microarray and MLPA analysis increase the detection rate of causal CNVs in individuals with syndromic CHD.

KW - Congenital heart disease

KW - Copy number variants

KW - Microarray

KW - MLPA

UR - http://www.scopus.com/inward/record.url?scp=85065402275&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85065402275&partnerID=8YFLogxK

U2 - 10.1016/j.jbiotec.2019.04.025

DO - 10.1016/j.jbiotec.2019.04.025

M3 - Article

VL - 299

SP - 86

EP - 95

JO - Journal of Biotechnology

JF - Journal of Biotechnology

SN - 0168-1656

ER -