Progressive osseous heteroplasia caused by a mosaic gnas mutation

Abstract

Progressive osseous heteroplasia (POH, OMIM#166350) is an “ultrarare” genetic condition characterized by plaque-like heterotopic ossification, beginning in infancy in the dermis and subsequently progressing to involve deep connective tissues such as muscles and joints, sometimes resulting in loss of mobility ¹. It is usually associated with paternal inheritance of an inactivating mutation at the GNAS gene but in some patients (around 30% of cases) with identical clinical characteristics of POH no mutations have been detected ². On the other hand, the same mutation on the paternal allele can be responsible for pseudopseudohypoparathyroidism (PPHP, OMIM#612463), or, if maternally inherited, pseudohypoparathyroidism type 1A (PHP1A, OMIM#103580) ^.

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