However, a number of recurrent rare pathogenic variants found in some recently discovered MD genes (p.Arg22* in FBLX4, p.Arg518Cys in ACAD9, p.Arg417* in CLPB and c.1822_1828+10delinsACCAACAGG in SERAC1) may extend the ethnic specificity of MD in the Polish population reported earlier by us for variants p.Glu140Lys in SCO2 [14] and c.845_846delCT in SURF1 genes [69]. Here, SCO2 is linked to Menkes disease.