Fig. 1.

Localization of mutations in FBN1 and results from qualitative analysis (a) Schematic presentation of FBN1 with the localization of the 16 mutations investigated in this study indicated (b) Analysis of cDNA fragments containing FBN1 exons 36–44 from the patient with c.4817-2delA (lane 3), c.A4925G (lane 4), and control (lane 2). The fragment size marker is in lane 1. Lanes 3 and 4 show fragments corresponding to the normal (955 bp) and truncated cDNA fragments of 829 bp and 937 bp from patients with c. 4817-2delA and c. A4925G, respectively. c Fragment of FBN1 cDNA sequence in patient with 4817 + 2 T > C. d Fragment of FBN1 cDNA sequence in patient with A4925G. e Aberrant splicing resulting from the mutations, c.4817-2delA and c.A4925G lead to two distinct in frame deletions affecting exon 39 (schematic presentation). Skip of exon 39 (c.4817-4942del) (yellow), was confirmed in the patient with the c.4817-2delA splice site variant, whereas deletion of c.4925-4942 (green) was identified in the patient with the c.A4925G variant, which likely introduced a cryptic splice site