HPSE2 and Ochoa syndrome: Exon (Lücking et al., 2001) or whole gene (Singleton et al., 2003) triplication is very rarely reported as a mutational mechanism in Mendelian disorders and has not previously been reported for HPSE2. It is interesting to note that an insertion-deletion of exons 8 and 9 in HPSE2 has been reported associated with UFS (Daly et al., 2010).