Article
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clinical genetics - 1 Jun 2023
Guo Dong-Chuan, Duan Xueyan, Mimnagh Kathleen, Cecchi Alana C, Marin Isabella C, Yu Yang, Velasco Walter V, Lee Kwanghyuk, Zhu Xue, Murdock David R, Leal Suzanne M, Wheeler Marsha M, Smith Josh, Bamshad Michael J, Milewicz Dianna M
Abstract excerpt
Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome-wide linkage analysis for thoracic aortic disease identified a peak at 15q21.1, and genome sequencing identified a novel deep intronic FBN1 variant that segregated with thoracic aortic disease in the family (LOD score 2.7) and was...
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