LIPA and familial hyperaldosteronism: In addition, in the LIPA gene of patients with Wolman disease, cholesterol ester storage disease, or FH, many other rare rearrangements have been found, including a long deletion (parts of intron 3 and exon 4 [59,60]); frame shift mutations c.684delT (p.Phe228Leufs*13) [48], c.229+3A>C [51], and c.482delA [60]; and >50 missense and nonsense mutations as well as substitutions in the promoter region and splice sites with a predicted pathogenic effect [50,51,53,61,62,63,64,65].