PROGRESSIVE OSSEOUS HETEROPLASIA: A NEW MUTATION IN THE GNAS1 GENE AND REVIEW OF THE LITERATURE

Key words: Progressive osseous heteroplasia, GNAS1, Heterotopic ossification, Calcification

Progressive osseous heteroplasia (PHO) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and by progressive heterotopic ossification of cutaneous, subcutaneous and deep connective tissues during childhood. We report a case of progressive osseous heteroplasia resulting from a de novo mutation in the GNAS1 gene with only the mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia. This new mutation helps extend the genotype-phenotype correlation further.