Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients
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Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification : early diagnosis of syndromic patients. / Sørensen, Karina Meden; El-Segaier, Milad; Fernlund, Eva; Errami, Ab; Bouvagnet, Patrice; Nehme, Nancy; Steensberg, Jesper; Hjortdal, Vibeke E.; Soller, Maria; Behjati, Mohaddeseh; Werge, Thomas; Kirchoff, Maria; Schouten, Jan; Tommerup, Niels; Andersen, Paal Skytt; Larsen, Lars Allan.
I: American Journal of Medical Genetics. Part A, Bind 158A, Nr. 4, 03.2012, s. 720-5.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification
T2 - early diagnosis of syndromic patients
AU - Sørensen, Karina Meden
AU - El-Segaier, Milad
AU - Fernlund, Eva
AU - Errami, Ab
AU - Bouvagnet, Patrice
AU - Nehme, Nancy
AU - Steensberg, Jesper
AU - Hjortdal, Vibeke E.
AU - Soller, Maria
AU - Behjati, Mohaddeseh
AU - Werge, Thomas
AU - Kirchoff, Maria
AU - Schouten, Jan
AU - Tommerup, Niels
AU - Andersen, Paal Skytt
AU - Larsen, Lars Allan
N1 - Copyright © 2012 Wiley Periodicals, Inc.
PY - 2012/3
Y1 - 2012/3
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.35214
DO - 10.1002/ajmg.a.35214
M3 - Journal article
C2 - 22383218
VL - 158A
SP - 720
EP - 725
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -
ID: 38061847