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Next generation diagnostics on cardiomyopathy

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Next generation diagnostics on cardiomyopathy

BLOUIN, Jean-Louis, et al.

BLOUIN, Jean-Louis, et al . Next generation diagnostics on cardiomyopathy. Molecular Cytogenetics , 2014, vol. 7, no. Suppl 1 Proceedings of the International Conference on Human, p. I4

DOI : 10.1186/1755-8166-7-S1-I4 PMID : 24949098

Available at:

http://archive-ouverte.unige.ch/unige:42303

Disclaimer: layout of this document may differ from the published version.

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SPEAKER PRESENTATION Open Access

Next generation diagnostics on cardiomyopathy

Jean-Louis Blouin

1,2*

, Jeremy Bevillard

2

, Periklis Makrythanasis

2

, Michel Guipponi

1,2

, Federico Santoni

2

, Stylianos E. Antonarakis

1,2

, Siv Fokstuen

1

From

International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG)

Ahmadabad, India. 23-25 January 2013

Cardiomyopathies are common, seemingly monogenic autosomal dominant cardiac disorders known as the pri- mary cause of sudden cardiac death in young adults.

These diseases are characterized by a remarkable genetic heterogeneity, which makes it difficult to unravel the causative mutation in a diagnostic laboratory that is very laborious and expensive by Sanger sequencing.

To circumvent these limitations, we explored solutions of high throughput sequencing of targeted exomes with the aim to implement this approach in routine diagnos- tics. As a first test we designed a capture microarray with the total genomic length of 1 Mbp that includes all exons/splicing sites of 130 genes involved in cardiovas- cular mendelian disorders and analyzed simultaneously four samples by multiplexing patients with cardiomyo- pathies or Long-QT syndrome. Pathogenic mutations and variants of unknown significance were found thus resolving the genetic causes of the cardiopathy in three.

In the fourth patient the mutation usually associated with hypertrophic cardiomyopathy was found with Long-QT. Further developments to next generation diagnostics are now in progress, and will be also discussed.

In conclusion, high throughput sequencing holds con- siderable promises for molecular diagnosis of highly het- erogeneous disorders in clinical practice and allows a better understanding of the complexity of mendelian disorders.

Authors’details

1Genetic Medicine, University Hospitals of Geneva, Switzerland.2Genetic Medicine and Development, University of Geneva School of Medicine, Switzerland.

Published: 21 January 2014

doi:10.1186/1755-8166-7-S1-I4

Cite this article as:Blouinet al.:Next generation diagnostics on cardiomyopathy.Molecular Cytogenetics20147(Suppl 1):I4.

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* Correspondence: [email protected]

1Genetic Medicine, University Hospitals of Geneva, Switzerland Full list of author information is available at the end of the article Blouinet al.Molecular Cytogenetics2014,7(Suppl 1):I4 http://www.molecularcytogenetics.org/content/7/S1/I4

© 2014 Blouin et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://

creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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