Fig. 5

One hundred and ninety-one (191) children with clinical phenotype of CPP were tested for MKRN3 pathogenic variants. A A total of three pathogenic variants in the MKRN3 coding region have been found, with the novel p.Gly312Asp being the most frequent and thus suggesting a founder effect. B Four other rare upstream MKRN3 likely pathogenic variants have also been found in 103 of the 191 children with CPP who have been tested