LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such families, and compound rare heterozygous variants (p.Pro45Argfs ∗25 and p.Glu750∗) in LTBP3 were identified in affected members of one family.

Source: The American Journal of Human Genetics - April 5, 2018 Category: Genetics & Stem Cells Authors: Dong-chuan Guo, Ellen S. Regalado, Amelie Pinard, Jiyuan Chen, Kwanghyuk Lee, Christina Rigelsky, Lior Zilberberg, Ellen M. Hostetler, Micheala Aldred, Stephanie E. Wallace, Siddharth K. Prakash, University of Washington Center for Mendelian Genomics, Suz Tags: Report Source Type: research