The Genetic Basis of Progressive Osseous Heteroplasia

Important insights into the regulation of mineral-ion homeostasis, cartilage development, and thus bone growth have been obtained through the molecular definition of various genetic disorders. Several of these disorders, most of which are rare, are now known to be caused by mutations in a single gene, GNAS1, which gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal allele, or both and are either coding or noncoding. Because of this unusual complexity, GNAS1 mutations can lead to a variety of different phenotypic changes.In 1942, Fuller Albright and his colleagues described a syndrome, . . .