The ethnicity profile of patients with birthmarks reveals interaction of germline and post-zygotic genetics

Abstract

GNA11 and GNAQ are highly homologous genes encoding different Gα subunits of heterotrimeric G-proteins. We recently described post-zygotic activating mutations in GNA11 or GNAQ as causes of Phakomatosis Pigmentovascularis (PPV), and GNAQ mosaicism as a cause of Extensive Dermal Melanocytosis (EDM)¹. GNAQ mosaicism has previously been found to cause Sturge-Weber syndrome (SWS) and isolated non-syndromic port-wine stain type capillary malformations ².

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