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

Aortic aneurysm, familial thoracic 7 (AAT7) [I71.1] [I71.2]

OMIM numbers: 613780, 600922 (MYLK)

Dr. rer. nat. Karin Mayer

Scientific Background

The MYLK gene encodes the myosin II light chain kinase (MLCK) of the vascular smooth muscle. MLCK controls vascular contractions by phosphorylating the regulatory light chain of myosin II. MYLK mutations as a further cause of familial aortic dissection have been identified in two families of a group of 193 patients. Analyses of the aorta ascendens in affected carriers presented a degeneration of the media with thinning and fragmentation of the filaments. Although the locus was not found by linkage analysis, TAAD caused by MYLK mutations on chromosome 3q21 is called AAT7.