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Clinical Chemistry 54: 682-687, 2008. First published February 7, 2008; 10.1373/clinchem.2007.099119
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(Clinical Chemistry. 2008;54:682-687.)
© 2008 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Array-Based Resequencing Assay for Mutations Causing Hypertrophic Cardiomyopathy

Stephan Waldmüller1,a, Melanie Müller1, Kirsten Rackebrandt1, Priska Binner1, Sven Poths2, Michael Bonin2 and Thomas Scheffold1

1 Institute for Heart and Circulation Research, University of Witten/Herdecke, Dortmund, Germany; 2 Institute for Human Genetics, University of Tübingen, Tübingen, Germany.

aAddress correspondence to this author at: Institute for Heart and Circulation Research at the University of Witten/Herdecke, Otto-Hahn-Strasse 15, 44227 Dortmund, Germany. Fax 49-231-97426157; e-mail waldmueller{at}herz-kreislaufforschung.de.

Background: Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease. An array-based resequencing (ABR) assay was developed to facilitate genetic testing in HCM.

Methods: An Affymetrix resequencing array and a single long-range PCR protocol were developed to cover the 3 most commonly affected genes in HCM, MYH7 (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)].

Results: The assay detected the underlying point mutation in 23 of 24 reference samples and provided pointers toward identifying a G insertion and a 3-bp deletion. The comparability of array-based assay results to conventional capillary sequencing was ≥99.9%. Both techniques detected 1 heterozygous variant that was missed by the other method.

Conclusions: The data provide evidence that ABR can substantially reduce the high workload previously associated with a genetic test for HCM. Therefore, the HCM array could facilitate large-scale studies aimed at broadening the understanding of the genetic and phenotypic diversity of HCM and related cardiomyopathies.






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