Fig. 2

Mutation analysis of the FREM1variant performed on the DNA extracted from the patient (a, b) and her father (c, d). a heterozygous c.3939 A > C (p.Y1313X) variant at exon 23in the patient; b heterozygous c.580G > A (p.R194X) variant at exon5 in the patient; c heterozygous c.3939 A > C variant at exon 23 in the patient’s father; d no variant at exon 5 in the patient’s father; e a schematic diagram of FREM1 primary structure