The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

The Familial Non-Syndromic Thoracic Aortic Aneurysms and Dissections maps to Marfan Disease Gene (Fibrillin 1) locus

Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.

Thoracic aortic aneurysm and dissections (TAADs) are associated with both high mortality and medical expense. Poor outcomes are preventable by surgical repair; however, identifying individuals at-risk is difficult. Researchers are scanning the human genome to characterize the genetic determinants of TAADs by identifying chromosomal regions, gene mutations, single nucleotide polymorphism (SNP), ...

Familial thoracic aortic aneurysms and dissections.

Rupture of thoracic aortic aneurysms and/or dissections is not rare, occurring in approximately 0.6% of all medicolegal autopsies. Most forensic pathologists are aware of the association between thoracic aortic aneurysms/dissections and trauma, atherosclerosis, inflammation and Marfan syndrome. In this report, we discuss a familial form of thoracic aortic dilatation and/or dissection that is di...

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.

BACKGROUND Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS Fifteen...

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

BACKGROUND Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by...