Table 1.
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. |