From: Identification of gross deletions in FBN1 gene by MLPA
Patient No. | Age (y) | Deletion breakpoints | Deletion (FBN1 exon affected) | Phenotype |
---|---|---|---|---|
AD234 | 24 | g.48749026-48753819 | FBN1: exon 43 | Classic MFS |
AD392 | 38 | g.48724560-48722281 | FBN1: exon 56 | Classic MFS |
AD533-1 | 5 | g.48727672-48726338 | FBN1: exon 54 | Suspected MFS |
AD680-1 | 14 | g.48734801-48730690 | FBN1: exon 50 | Suspected MFS |
AD437 | 37 | NA | FBN1: exon 44–66 | Classic MFS |