Sequencing of HPSE2 in the proband revealed a homozygous pathogenic variant, as defined under ACMG guidelines (PVS1, PM2_Mod, PS4_Supp) (Richards et al., 2015) c.429T>A, p.(Tyr143*), which has previously been reported in a family affected by UFS (Stuart et al., 2015). The gene discussed is HPSE2; the disease is Ochoa syndrome.