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+44 28 3718 0055Case 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: ptpomianowski@gmail.com |
|
| 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.
