Figure 3.

Identification of two novel FMR1 splice variants in two boys with sporadic ID (second and third families). (a) Pedigree and photograph of the patient from the second family carrying a de novo c.990+1G>A variant. This variant affects the donor splice site of exon 10 and leads to the skipping of the entire exon in FMR1 mRNA. (b) Pedigree and photograph of the patient from the third family carrying a c.420-8A>G variant. This variant alters the splice acceptor site of exon 6 and leads to the use of alternative intronic cryptic sites.