Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
The phenotypic variability of diastrophic dysplasia.
Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride.
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
These data are consistent with a severe derangement in the rate of proteoglycan production and deposition resulting from mutations in the diastrophic dysplasia sulfate transporter gene.
Although mutations in the diastrophic dysplasia sulfate transporter gene are expected to result in complex and multiple chemical abnormalities of the cartilage matrix, the immunohistochemical distribution of biglycan and decorin discloses a major structural change in the overall organization of epiphyseal cartilage matrix, with important implications for the pathogenesis of the abnormal growth and modeling of endochondrally formed bones in ACG-IB.
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type IB homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
James, who has diastrophic
dysplasia, a rare form of dwarfism, said: "I was really surprised to come away with some medals from Birmingham this year.
DIASTROPHIC dysplasia affects about one in 100,000 births and is a disorder of cartilage and bone development.
About half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth (a cleft palate).