Figure 1

Deep intronic NF2 mutation description. (a) Analysis of patient fibroblasts showed a proportion of NF2 transcripts containing the inclusion of a cryptic exon (NF2 CEI) compared with the WT NF2 mRNA (NF2 WT) (upper panel). Forward sequence of cryptic exon inclusion is shown (bottom panel). (b) Schematic representation of the identified NF2 deep intronic mutation and MS-PMO location. Constitutive and cryptic exons are represented by dark and light gray boxes, respectively. The boundaries of the cryptic inserted exon are shown in uppercase; flanking intronic sequences are shown in lowercase. MS-PMO sequence is underlined. Mutated nucleotide is shown in bold and the nucleotide change is indicated by an arrow.