Skip to main content
. Author manuscript; available in PMC: 2020 Oct 5.
Published in final edited form as: Am J Med Genet A. 2018 Feb;176(2):337–350. doi: 10.1002/ajmg.a.38580

Figure 3: Genomic locations of exonic FLNA mutations associated with TAA.

Figure 3:

A schematic representation of the FLNA gene. The FLNA gene is 25.9 kbp in size and encoded by 49 exons including a newly discovered “poison” exon 9N (Zhang et al, 2016), present in the contig: NT 025965. Exons are depicted by boxes, and introns are shown as black lines between the exons. Exons with relevant mutations are numbered. Types of FLNA mutations occurring in patients with TAA are localized on the FLNA map. The mutation in two families that each show two 2 individuals is indicated by one circle with total family members in parentheses. Five unique missense FLNA mutations (occurring in 7 individuals) associated with TAA localize most commonly to the actin-binding domains of FLNA gene (encoded by exons 2–5), whereas other loss-of-function mutations (nonsense, splicing, frameshift) are seen throughout the gene. One patient had a complete deletion of the FLNA gene.