Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Table 3 Adapted from Le Goff & Cormier-Daire (2008), Relevant Diseases Associated with THE ADAMTS(L) family

Gene	Function	Disease	Phenotype
ADAMTS2	Procollagen N propeptidase	EDS VIIC	Fragile skin, joint laxity
ADAMTS10	Unknown	Weill-Marchesani syndrome (WMS)	Short stature and extremities
			Thick skin
			Joint limitation
			Lens dislocation
ADAMTS17	Unknown	WMS-like syndrome 1	Short stature
ADAMTS17	Unknown	WMS-like syndrome 1	Lens dislocation
ADAMTS13	Von Willebrand factor cleaving-protease	Thrombotic thrombocytopenic purpura	Capilliaries and arterioles (heart, brain, kidney)
			Thrombosis of short stature and extremeties
			Joint limitation
			Cardiac vascular disease
ADAMTSL4	Associated with regulating deposition of FBN1 into microfibrils	Ectopialentis	Lens dislocation
ADAMTSL2	Store/regulate latent TGFB in the extracellular matrix	EDS VIIC, Geleophysic dysplasia	Hypermobility, joint laxity

Mutations in ADAMTS2 are associated EDS VIIC. A mutation in ADAMTSL2 has previously been associated with geleophysic dysplasia, whose phenotype includes joint limitation

ISSN: 1471-2474