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Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients

Sorensen, Karina Meden; El-Segaier, Milad LU ; Fernlund, Eva LU ; Errami, Ab; Bouvagnet, Patrice; Nehme, Nancy; Steensberg, Jesper; Hjortdal, Vibeke; Soller, Maria LU and Behjati, Mohaddeseh, et al. (2012) In American Journal of Medical Genetics. Part A 158A(4). p.720-725
Abstract
Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients with CHD for CNVs in specific genomic regions may lead to early diagnosis and awareness of extracardiac symptoms. We designed a multiplex ligation-dependent probe amplification (MLPA) assay specifically for screening of CHD patients. The MLPA assay allows for simultaneous analysis of CNVs in 25 genomic regions previously associated with CHD. We screened blood samples from 402 CHD patients and identified 14 rare CNVs in 13 (3.2%) patients. Five CNVs were... (More)
Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients with CHD for CNVs in specific genomic regions may lead to early diagnosis and awareness of extracardiac symptoms. We designed a multiplex ligation-dependent probe amplification (MLPA) assay specifically for screening of CHD patients. The MLPA assay allows for simultaneous analysis of CNVs in 25 genomic regions previously associated with CHD. We screened blood samples from 402 CHD patients and identified 14 rare CNVs in 13 (3.2%) patients. Five CNVs were de novo and six where inherited from a healthy parent. The MLPA screen led to early syndrome diagnosis in two of these patients. We conclude that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage. (C) 2012 Wiley Periodicals, Inc. (Less)
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publication status
published
subject
keywords
congenital heart disease, multiplex ligation-dependent probe, amplification, MLPA, copy number variants, CNVs
in
American Journal of Medical Genetics. Part A
volume
158A
issue
4
pages
720 - 725
publisher
John Wiley & Sons
external identifiers
  • wos:000302544200006
  • scopus:84859005021
ISSN
1552-4825
DOI
10.1002/ajmg.a.35214
language
English
LU publication?
yes
id
b705b4b4-c81e-442e-b080-05a962acc63b (old id 2574802)
date added to LUP
2012-06-01 08:57:29
date last changed
2017-08-13 03:23:37
@article{b705b4b4-c81e-442e-b080-05a962acc63b,
  abstract     = {Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients with CHD for CNVs in specific genomic regions may lead to early diagnosis and awareness of extracardiac symptoms. We designed a multiplex ligation-dependent probe amplification (MLPA) assay specifically for screening of CHD patients. The MLPA assay allows for simultaneous analysis of CNVs in 25 genomic regions previously associated with CHD. We screened blood samples from 402 CHD patients and identified 14 rare CNVs in 13 (3.2%) patients. Five CNVs were de novo and six where inherited from a healthy parent. The MLPA screen led to early syndrome diagnosis in two of these patients. We conclude that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage. (C) 2012 Wiley Periodicals, Inc.},
  author       = {Sorensen, Karina Meden and El-Segaier, Milad and Fernlund, Eva and Errami, Ab and Bouvagnet, Patrice and Nehme, Nancy and Steensberg, Jesper and Hjortdal, Vibeke and Soller, Maria and Behjati, Mohaddeseh and Werge, Thomas and Kirchoff, Maria and Schouten, Jan and Tommerup, Niels and Andersen, Paal Skytt and Larsen, Lars Allan},
  issn         = {1552-4825},
  keyword      = {congenital heart disease,multiplex ligation-dependent probe,amplification,MLPA,copy number variants,CNVs},
  language     = {eng},
  number       = {4},
  pages        = {720--725},
  publisher    = {John Wiley & Sons},
  series       = {American Journal of Medical Genetics. Part A},
  title        = {Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients},
  url          = {http://dx.doi.org/10.1002/ajmg.a.35214},
  volume       = {158A},
  year         = {2012},
}