Congenital Heart Disease: Molecular Diagnostics

281 Pages·2006·3.1 MB·English

by  D. Woodrow Benson (auth.)

Congenital Heart Disease
M E T H O D S I N M O L E C U L A R M E D I C I N E™
John M. Walker, SERIES EDITOR
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M E T H O D S I N M O L E C U L A R M E D I C I N E™
Congenital Heart
Disease
Molecular Diagnostics
Edited by
Mary Kearns-Jonker
Transplantation Biology Research Lab
Division of Cardiothoracic Surgery
Children's Hospital of Los Angeles
Los Angeles, CA
© 2006 Humana Press Inc.
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Library of Congress Cataloging in Publication Data
Congenital heart disease : molecular diagnostics / edited by Mary Kearns-Jonker.
p. ; cm. -- (Methods in molecular medicine ; 126)
Includes bibliographical references and index.
ISBN 1-58829-375-0 (alk. paper)
1. Congenital heart disease--Molecular diagnosis. 2. Congenital heart
disease--Genetic aspects. 3. Heart--Diseases--Molecular diagnosis.
4. Heart--Diseases--Genetic aspects. 5. Molecular diagnosis.
I. Kearns-Jonker, Mary. II. Series.
[DNLM: 1. Heart Defects, Congenital--diagnosis. 2. Diagnostic
Techniques, Cardiovascular. 3. Heart Defects, Congenital--genetics.
4. Molecular Biology--methods. WG 220 C7543 2006]
RC687.C666 2006
616.1'042--dc22 2005026174
Preface
The Methods in Molecular Medicine™ series is noted for providing clini-
cians, research scientists, and interested individuals with detailed experimental
procedures that are written by leading experts in the field. Congenital Heart
Disease: Molecular Diagnostics introduces a series of techniques that are cur-
rently used to identify the molecular basis for cardiovascular disease. New
knowledge gained from the application of molecular genetics to medicine has
had a significant impact in biomedical research. The chapters in this book
update the reader on new developments in the field and introduce the technol-
ogy currently used to define the molecular genetic basis for congenital malfor-
mations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in
human patients. In addition, the limitations to identifying patients with con-
genital heart disease using this information during both pre- and postnatal
periods is discussed in this volume. The experimental techniques are presented
in sufficient detail to ensure that the procedures can be reproduced in any labo-
ratory, irrespective of the level of experience of the investigators. The notes
section included at the end of each chapter provides valuable insight for
troubleshooting, experimental design, and data analysis that come from the
benefit of the expertise of the authors who are all renowned and well-
respected in the field. It is my hope that Congenital Heart Disease: Molecular
Diagnostics will be a valuable resource for medical personnel, researchers,
patients, and their families.
I would like to express my gratitude to the authors of this volume for their
enthusiasm for the work and thoughtful input into each chapter. I would also
like to thank the series editor, Professor John Walker, for his guidance and
endless patience during the preparation of this volume.
This book is dedicated to my mom, Lillian Kearns, and to my family for
their continuous love and support.
Mary Kearns-Jonker
v
Contents
Preface ..............................................................................................................v
Contributors .....................................................................................................ix
1 Introduction
D. Woodrow Benson.............................................................................1
2 Genetics of Cardiac Septation Defects
and Their Pre-Implantation Diagnosis
Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher.......19
3 Molecular and Genetic Aspects
of DiGeorge/Velocardiofacial Syndrome
Deborah A. Driscoll............................................................................43
4 Mutation Screening for the Genes Causing Cardiac Arrhythmias
Jeffrey A. Towbin................................................................................57
5 Mutation Analysis of the FBN1 Gene
in Patients With Marfan Syndrome
Paul Coucke, Petra Van Acker, and Anne De Paepe..........................81
6 Mutation Analysis of PTPN11
in Noonan Syndrome by WAVE
Navaratnam Elanko and Steve Jeffery................................................97
7 Williams–Beuren Syndrome Diagnosis
Using Fluorescence In Situ Hybridization
Lucy R. Osborne, Ann M. Joseph-George, and Stephen W. Scherer...113
8 Congenital Heart Disease: Molecular Diagnostics
of Supravalvular Aortic Stenosis
May Tassabehji and Zsolt Urban......................................................129
9 “Chip”ping Away at Heart Failure
J. David Barrans and Choong-Chin Liew..........................................157
10 Molecular Diagnostics of Catecholaminergic Polymorphic
Ventricular Tachycardia Using Denaturing High-Performance
Liquid Chromatography and Sequencing
Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker................171
11 Mutation Detection in Tumor Suppressor Genes
Using Archival Tissue Specimens
Aristotelis Astrinidis and Elizabeth Petri Henske.............................185
vii
viii Contents
12 Friedreich Ataxia: Detection of GAA Repeat Expansions
and Frataxin Point Mutations
Massimo Pandolfo.............................................................................197
13 The Cardiovascular Manifestations
of Alagille Syndrome and JAG1 Mutations
Elizabeth Goldmuntz, Elizabeth Moore, and Nancy B. Spinner......217
14 Array Analysis Applied to Malformed Hearts:
Molecular Dissection of Tetralogy of Fallot
Silke Sperling....................................................................................233
15 DNA Mutation Analysis in Heterotaxy
Stephanie M. Ware...........................................................................247
16 Use of Denaturing High-Performance Liquid Chromatography
to Detect Mutations in Pediatric Cardiomyopathies
Amy J. Sehnert..................................................................................257
Index............................................................................................................271
Contributors
ARISTOTELIS ASTRINIDIS • Department of Medical Oncology, Fox Chase
Cancer Center, Philadelphia, PA
J. DAVID BARRANS • Department of Medicine, Brigham and Women’s
Hospital, Boston, MA
CRAIG T. BASSON • Greenberg Cardiology Division, Department
of Medicine, Weill Medical College of Cornell University, New York, NY
D. WOODROW BENSON • Division of Cardiology, Department of Pediatrics,
Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
ZAHURUL A. BHUIYAN• Department of Clinical Genetics, Academic Medical
Center, Amsterdam, The Netherlands
HENNIE BIKKER • Department of Clinical Genetics, Academic Medical
Center, Amsterdam, The Netherlands
PAUL COUCKE• Department of Medical Genetics, Ghent University Hospital,
Ghent, Belgium
ANNE DE PAEPE • Department of Medical Genetics, Ghent University
Hospital, Ghent, Belgium
DEBORAH A. DRISCOLL • Division of Reproductive Genetics, Department
of Obstetrics and Gynecology, University of Pennsylvania Medical
Center, Philadelphia, PA
NAVARATNAM ELANKO • Genetics Unit, St. George’s Hospital, London,
United Kingdom
ELIZABETH GOLDMUNTZ • The Division of Cardiology, Abramson Research
Center, The Children’s Hospital of Philadelphia, Philadelphia, PA
CATHY J. HATCHER • Greenberg Cardiology Division, Department of
Medicine, Weill Medical College of Cornell University, New York, NY
ELIZABETH PETRI HENSKE • Department of Medical Oncology, Fox Chase
Cancer Center, Philadelphia, PA
STEVE JEFFERY • Division of Medical Genetics, Department of Clinical
Developmental Sciences, St. George’s University of London, London,
United Kingdom
ANN M. JOSEPH-GEORGE • Genetics and Genomic Biology, The Hospital
for Sick Children, Toronto, Ontario, Canada
MARY KEARNS-JONKER • Transplantation Biology Research Lab, Division
of Cardiothoracic Surgery, Children's Hospital of Los Angeles,
Los Angeles, CA
ix
x Contributors
CHOONG-CHIN LIEW • Department of Medicine, Brigham and Women’s
Hospital, Boston, MA
DEBORAH A. MCDERMOTT • Greenberg Cardiology Division, Department
of Medicine, Weill Medical College of Cornell University, New York, NY
ELIZABETH MOORE • Division of Human Genetics, The Children’s Hospital
of Philadelphia, Abramson Research Center, Philadelphia, PA
LUCY R. OSBORNE • Department of Medicine, The University of Toronto,
Toronto, Ontario, Canada
MASSIMO PANDOLFO • Service de Neurologie, Université Libre de Bruxelles-
Hôpital Erasme, Bruxelles, Belgium
ALEX V. POSTMA • Experimental and Molecular Cardiology Group,
Academic Medical Center, Amsterdam, The Netherlands
STEPHEN W. SCHERER • Genetics and Genomic Biology, The Hospital
for Sick Children, Toronto, Ontario, Canada
AMY J. SEHNERT • Department of Pediatrics, University of California
at San Francisco, Pediatric Heart Center, San Francisco, CA;
CardioDX Inc., Palo Alto, CA
SILKE SPERLING • Department of Vertebrate Genomics, Max Planck Institute
for Molecular Genetics, Berlin, Germany
NANCY B. SPINNER • The Division of Human Genetics, The Children’s
Hospital of Philadelphia, Abramson Research Center, Philadelphia, PA
MAY TASSABEHJI • Academic Unit of Medical Genetics, The University
of Manchester, St Mary’s Hospital, Manchester, United Kingdom
JEFFREY A. TOWBIN • Pediatric Cardiology, Texas Children’s Hospital,
Houston, TX
ZSOLT URBAN • Departments of Pediatrics and Genetics, Washington
University School of Medicine, St. Louis, MO
PETRA VAN ACKER • Department of Medical Genetics, Ghent University
Hospital, Ghent, Belgium
STEPHANIE M. WARE • Divisions of Molecular Cardiovascular Biology
and Human Genetics, Department of Pediatrics, Cincinnati Children's
Hospital Medical Center, Cincinnati, OH