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

In English

Författare

  • Karina Meden Sorensen
  • Milad El-Segaier
  • Eva Fernlund
  • Ab Errami
  • Patrice Bouvagnet
  • Nancy Nehme
  • Jesper Steensberg
  • Vibeke Hjortdal
  • Maria Soller
  • Mohaddeseh Behjati
  • Thomas Werge
  • Maria Kirchoff
  • Jan Schouten
  • Niels Tommerup
  • Paal Skytt Andersen
  • Lars Allan Larsen
Visa allt

Summary, in English

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.

Publiceringsår

2012

Språk

Engelska

Sidor

720-725

Publikation/Tidskrift/Serie

American Journal of Medical Genetics. Part A

Volym

158A

Issue

4

Dokumenttyp

Artikel i tidskrift

Förlag

John Wiley & Sons Inc.

Ämne

  • Pediatrics
  • Medical Genetics

Nyckelord

  • congenital heart disease
  • multiplex ligation-dependent probe
  • amplification
  • MLPA
  • copy number variants
  • CNVs

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 1552-4825