Table 1.

All reported cases of SOS with XYLT2 mutations and phenotypic differences.

	This report			Umair et al., 2017		Taylan et al., 2017		Taylan et al., 2016				Munns et al., 2015
	Patient1	Patient2	Patient3	Family A	Family B	Patient1	Patient2	Patient1	Patient2	Patient3	Patient 4	Patient1	Patient2	Patient3
Ethnicity	Pakistani	Pakistani	Pakistani	Iraqi	Turkish	Turkish	Turkish	Turkish	Canadian		Iraqi	European Australian
Consanguinity	+	+	+	+	-	-	+	+	+	+	+	-	-	+
Mutation	c.2518 – 2519delAG p.R840fs∗115			c.1159C>T p.R387W	c.2548G>C p.D850H	p.M237R	p.E854Afs∗101	c.2188C>T p.R730∗	c.1687C>Gp.R563G	c.1814T>C p.L605P	c.692dupC p.V232Gfs∗54	c.692dupC p.V232Gfs∗54	c.520delA p.A174Pfs∗35
Skeletal fragility	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Recurrent fractures	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Decreased spine mobility	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Facial dysmorphism	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Platyspondyly	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Cataract	+	+	+	+	+	+	+	+	+	+	+	+	+	+
Ureter dilation	-	-	-	-	-	-	-	-	-	-	-	+	+	-
Hearing loss	+	+	+	-	-	+	+	-	-	-	-	+	+	+
Learning difficulties	+	+	+	NA	+	+	+	+	+	+	+	+	+	-
Dental problems	-	-	-	-	-	-	-	-	+	-	-	-	-	-
Cardiac issues	-	-	-	+/-	-	-	-	+	-	-	-	+	+	-
Effect of bisphosphonate therapy	+/-	+/-	+/-	NA	NA	+	+	+	+	+	+	+	+	+/-