Finally, in a family with hyperinsulinism, a c.636+385A>G SNP (rs732941) in intron 5 of the HADH gene, which creates a cryptic acceptor splice site, acts in concert with a pathogenic HADH mutation (c.636+471G>T) in the same intron, which creates a cryptic donor splice site, to generate a 141-bp pseudoexon that leads to premature termination of translation (Flanagan et al. 2013). The gene discussed is HADH; the disease is hyperinsulinism.