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

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Aortic aneurysm, familial thoracic 4 (AAT4) [I71.1] [I71.2]

OMIM numbers: 132900, 160745 (MYH11)

Dr. rer. nat. Karin Mayer

Scientific Background

In 2005 the gene locus AAT4 for TAAD was mapped on chromosome 16p13.13–p13.12. In 2006 mutations in the MYH11 gene were identified by a mutational analysis within the candidate region. MYH11 codes for the heavy chain of myosin-11 in the vascular smooth muscles. MYH11 mutations were identified in about 1% of families with TAAD. So far, all affected carriers have also had a patent ductus arteriosus. Mutations in MYH11 are associated with medial thickening of the arteries in the vasa vasorum. Deletions and missense mutations in the C-terminal domain of MYH11 seem to impair the structure and aggregation of myosin filaments which are mainly responsible for contraction.