Molecular genetic basis of the human chondrodysplasias.
Considerable progress has been made in delineating the molecular genetic basis of the human chondrodysplasias. Two genes emerge as harboring mutations found in patients with the most common disorders. Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyloepiphyseal dysplasia-like clinical disorders, whereas mutations in the fibroblast growth factor receptor 3 gene are responsible for achondroplasia, thanatophoric dysplasia, and hypochondroplasia. A substantial portion of remaining patients have mutations of the genes encoding cartilage oligomeric matrix protein or diastrophic dysplasia sulfate transporter.
Horton
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Research Department, Portland Shriners Hospital, Oregon, USA.
D000130:Achondroplasia / Q000235:genetics; D003094:Collagen / Q000235:genetics; D003095:Collagen Diseases / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins / Q000235:genetics; D044168:Receptor, Parathyroid Hormone, Type 1; D018016:Receptors, Parathyroid Hormone / Q000235:genetics
C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins; D044168:Receptor, Parathyroid Hormone, Type 1; D018016:Receptors, Parathyroid Hormone; D003094:Collagen