Article: article from journal or magazin.
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
American Journal of Medical Genetics
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. In these conditions, sulfate transport across the cell membrane is impaired which results in insufficient sulfation of cartilage proteoglycans and thus in an abnormally low sulfate content of cartilage. The severity of the phenotype correlates well with the predicted effect of the underlying DTDST mutations: homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type 1B, while other structural or regulatory mutations usually result in one of the less severe phenotypes. The chondrodysplasias arising at the DTDST locus constitute a bone dysplasia family with recessive inheritance.
Animals, Anion Transport Proteins, Carrier Proteins/genetics, Chromosome Mapping, Chromosomes, Human, Pair 5, Female, Genotype, Humans, Membrane Transport Proteins, Mutation, Osteochondrodysplasias/classification, Osteochondrodysplasias/genetics, Phenotype, Polymerase Chain Reaction, Pregnancy, Prenatal Diagnosis
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