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Table 2 Overview of cases with large deletions in FBN1 gene

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
  1. All nucleotide positions are represented in relation to the human genome reference sequence (GRCh37/hg19), and position + 1 corresponds to the first nucleotide of the FBN1 reference sequence (GenBank NC_000015.9) at the genomic DNA (g) level
  2. NA not available