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patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial
CHST14 gene mutations are associated with musculocontractural type of Ehlers-Danlos syndrome.
We report on the detailed clinical characterization of two sisters with musculocontractural Ehlers-Danlos syndrome caused by a homozygous mutation in the CHST14 gene.
Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "dermatan sulfate-deficient adducted thumb-clubfoot syndrome".
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB (show SEMA6B Proteins)) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
A homozygous CHST14 (carbohydrate sulfotransferase 14) mutation in the two familial cases and compound heterozygous mutations in four sporadic cases of Ehlers-Danlos syndrome, were identified.
D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases
dermatan-4-sulfotransferase 1 has a role in adducted thumb-clubfoot syndrome
human D4ST-1, C4ST-1 (show CHST11 Proteins), and S4ST-2 have differential roles in dermatan sulfate biosynthesis
D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites
Deficiency for Chst14 results in decreased neurogenesis and diminished proliferation of neural stem cells.
analysis of the three CS sulfotransferases in the developing neocortex: uronyl 2-O-sulfotransferase (UST), N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase (4,6-ST) and dermatan 4-O-sulfotransferase-1 (D4-ST)
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.
carbohydrate sulfotransferase 14
, dermatan 4 sulfotransferase 1
, dermatan 4-sulfotransferase 1