Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 4 Issue: 1

Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD

Pawel T Pomianowski1,2*, Daniel Dykas2, Murim Choi4, Jingshing Wu2, Gregory A Kuzmik3, Dawn Ardito3, Sandip Mukherjee3 and John A Elefteriades3
1Department of Veterans Affairs, West Haven, CT, USA
2Department of Genetics, Yale School of Medicine, New Haven CT, USA
3Department of Surgery, Yale School of Medicine, New Haven CT, USA
4Department of Genetics, Howard Hughes Medical Institute, USA
Corresponding author : Pawel Pomianowski, MD
950 Campbell Ave, West Haven CT, USA, 06516
Tel: 860-670-8604; Fax: 860-549-8922
E-mail: [email protected]
Received: November 09, 2014 Accepted: December 03, 2014 Published: January 01, 2015
Citation: Dykas D, Choi M, Wu J, Kuzmik GA, Ardito D, et al. (2015) Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD. J Genet Disor Genet Rep 4:1. doi:10.4172/2327-5790.1000119

Abstract

 Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD

Background Seven genes have been identified as causative in the development of thoracic aortic aneurysms (TAA) and dissections (TAAD). In this study, we identify a single amino acid deletion in MYH11 gene which segregates with disease in a large TAAD family. Methods We identified five members in one family who had a history of TAA or TAAD. Blood samples from fifteen members of this family were collected for whole exome sequencing (WES) analysis and mutation analysis. Thirteen members of this family underwent echocardiography and cardiac pulse wave velocity (PWV) measurement. Results WES analysis revealed a mutation of myosin heavy chain 11 (MYH11) – a three base-pair deletion of leucine at position 1264 - that segregated with the disease phenotype in this family. PWV was not correlated with mutation or disease status. Conclusion Deletion of leucine at position 1264 in MYH11 appears to play an important role in the development of familial TAA and TAAD.

Keywords: Whole Exome Sequencing, Aorta, TAA, FTAA, MYH11Non-standard Abbreviations: WES: Whole Exome Sequencing; TAA: Thoracic Aortic Aneurysms; TTE: Trans Thoracic Echocardiogram; MYH11: Myosin Heavy Chain 11

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