Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.

Anna KeravnouEvy BashiardesKyriaki MichailidouMarinos SoteriouAreti MoushiMarios A Cariolou

Published in: BMC medical genetics (2018)

We describe two novel variants in a Cypriot family with TAA that are potentially pathogenic, highlighting the importance of molecular genetic evaluation in families with TAA. These results may prove useful for screening purposes in Cypriot patients with non-syndromic familial TAA facilitating early identification of atrisk family members and direct intervention.

Keyphrases

copy number
genome wide
bioinformatics analysis
randomized controlled trial
aortic valve
dna methylation
hypertrophic cardiomyopathy
left ventricular
early onset
gene expression
pulmonary artery
heart failure
autism spectrum disorder
aortic dissection
spinal cord injury
transcription factor