Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Aortic aneurysm, familial thoracic 5 (AAT5) [I71.1] [I71.2]

OMIM numbers: 609192, 190181 (TGFBR1)

Dr. rer. nat. Karin Mayer

Scientific Background

AAT5 was initially regarded as a further gene locus for familial TAAD on chromosome 9q33–q34. After discovering mutations in the TGFBR1 (Transforming Growth Factor Beta Receptor 1) gene as a cause for Loeys-Dietz syndrome, TGFBR1 mutations were also identified in 1% of all patients with isolated TAAD and positive family history.