One of the KS patients also carried the PROKR2 (p.Y113H) mutation, which has similar clinical manifestations to the patients in this study (30); the other KS patient who carried both FGFR1 (p.Gly348Glu) and RUVBL2 (p.Arg71Trp) only showed non-reproductive symptoms associated with cleft lip and palate (28, 31). Here, FGFR1 is linked to cleft lip.