Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute …
DM Milewicz, ES Regalado, J Shendure… - Trends in cardiovascular …, 2014 - Elsevier
Thoracic aortic aneurysms involving the aortic root and/or ascending aorta can lead to acute
aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and
dissections (TAAD) have a family history of the disease, referred to as familial TAAD
(FTAAD) that can be inherited in an autosomal dominant manner with variable expression
with respect to disease presentation, age of onset and associated features. Whole exome
sequencing (WES) has been used to identify causative mutations in novel genes for TAAD …
aortic dissections. Approximately 20% of patients with thoracic aortic aneurysms and
dissections (TAAD) have a family history of the disease, referred to as familial TAAD
(FTAAD) that can be inherited in an autosomal dominant manner with variable expression
with respect to disease presentation, age of onset and associated features. Whole exome
sequencing (WES) has been used to identify causative mutations in novel genes for TAAD …