The MYLK gene on chromosome 3 encodes the myosin light chain kinase protein. A small number of (rare) mutations in the MYLK gene are considered pathogenic for familial thoracic aortic aneurysm and dissection, which in OMIM is classified as aortic aneurysm, familial thoracic (type) 7.
In 2010, MYLK gene mutations rs387906782 (p.R1480*) and rs387906781 (p.S1759P) were identified as co-segregating with the disease in two families with FTAAD. All affected family members presented with acute aortic dissections at various ages. In 2016, exome sequencing of a multigenerational Swedish family revealed a disease-causing 2-bp deletion, c.3272_3273del, p.Ser1091*, which at this time lacks a dbSNP rs-id.[PMID 27586135]