Table 1.

Human genetic disorders caused by defects in DS chains and core proteins of DS-PGs. B4GALT7, beta1,4-galactosyltransferase 7; B3GALT6, beta1,3-galactosyltransferase 6; DSE, dermatan sulfate epimerase; CHST14, carbohydrate sulfotransferase 14; UST, uronyl 2-sulfotransferase.

Enzymes and DS-PG Core Proteins	Coding Genes	MIM Number	Human Genetic Disorders	Clinical Features	Refs.
β4Galactosyltransferase-I (GalT-I)	B4GALT7	130070 604327	Ehlers-Danlos syndrome progeroid type 1	Developmental delays, aged appearance, a short stature, craniofacial dysmorphism, and generalized osteopenia.	[30,31,32,33,34,35,36]
			Larsen of Reunion Island syndrome	Multiple dislocations, hyperlaxity, dwarfism, and distinctive facial features.
β3Galactosyltransferase-II (GalT-II)	B3GALT6	615349 615291	Ehlers-Danlos syndrome progeroid type 2	Sparse hair, wrinkled skin, defective wound healing with atrophic scars, osteopenia, and radial head dislocation.	[38,39,40,41]
		271640	Spondyloepimetaphyseal dysplasia with joint laxity type 1	Spatulate fingers with short nails, hip dislocation, elbow contracture, clubfeet, and mild craniofacial dysmorphism including prominent eyes, blue sclera, a long upper lip, and small mandible with a cleft palate.
Dermatan sulfate epimerase	DSE	615539 605942	Ehlers-Danlos syndrome musculocontractural type 2	Characteristic facial features, congenital contracture of the thumbs and feet, hypermobility of the finger, elbow, and knee joints, atrophic scarring of the skin, and myopathy.	[42,43]
Dermatan 4-O-sulfotransferase	CHST14	601776 608429	Ehlers-Danlos syndrome musculocontractural type 1; EDS Kosho type	Craniofacial dysmorphism, multiple congenital contractures including adduction-flexion contracture of the thumbs and clubfeet, malformations of the heart, kidney, intestine, and eye; skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent joint dislocations, progressive foot or spinal deformities, pneumothorax, large subcutaneous hematomas, and diverticular perforation.	[41,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58]
			Adducted thumb-clubfoot syndrome
Uronosyl 2-O-sulfotransferase	UST	610752	Multiple congenital anomalies of the heart and central nervous system	Growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity, and joint laxity.	[59]
Decorin	DCN	610048 125255	Congenital stromal corneal dystrophy	Diffuse bilateral corneal clouding, corneal opacities, strabismus, nystagmus, photophobia, and esotropia.	[60,61,62,63,64]
Biglycan	BGN	300106 301870	Spondyloepimetaphyseal dysplasia, X-linked	A short stature and osteoarthritic changes in joints; anomalies of the spine, and epiphyses and metaphyses of the long bones.	[65,66]
		300989	Meester-Loeys syndrome	Aortic aneurysm and dissection, hypertelorism, proptosis, downslanting palpebral fissures, frontal bossing, malar hypoplasia, pectus deformities, joint hypermobility or contracture, skin striae, a bifid uvula, cervical spine instability, ventricular dilation, hip dislocation, platyspondyly, phalangeal dysplasia, and dysplastic epiphyses of the long bones.