Table 2.

Clinical characteristics of patients with mutations in the P3H1 and IFITM5 genes.

Family	Patient	Mutation	Inheritance Type	OI Type	Sex	Age	Blue Sclera	Fractures
P3H1 mutations
Family 1	Patient 39	c.1051G>T, p. Glu351*	de novo	3	M	24	+	12
IFITM5 mutations
Family 2	Patient 40	c.-14C>T	de novo	5	F	27	+	15
Family 3	Patient 41	c.-14C>T	de novo	5	F	26	+	50
Family 4	Patient 42	c.-14C>T	de novo	5	M	10	+	10