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Τρίτη 20 Φεβρουαρίου 2018

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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