Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.

Publication Type:

Journal Article


Circulation, Volume 103, Issue 20, p.2469-75 (2001)


Adolescent, Adult, Aged, Aortic Aneurysm, Child, Child, Preschool, Chromosome Banding, Chromosome Mapping, Chromosomes, Human, Pair 11, Family Health, Female, Genetic Heterogeneity, Genetic Predisposition to Disease, Humans, Infant, Lod Score, Male, Microsatellite Repeats, Middle Aged, Pedigree


Aortic aneurysms cause significant mortality, and >20% relate to hereditary disorders. Familial aortic aneurysm (FAA) has been described in such conditions as the Marfan and Ehlers-Danlos type IV syndromes, due to defects in the fibrillin-1 and type III procollagen genes, respectively. Other gene defects that cause isolated aneurysms, however, have not thus far been described.