PIGA related disorder as a range of phenotypes rather than two distinct subtypes

Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the possibility of a phenotypic spectrum associated with PIGA disorder.In order to further characterize this phenotypic spectrum, we present two patients with features of both the severe and less severe subtypes with a review of phenotypes reported to date in the literature.

Source: Brain and Development - November 4, 2019 Category: Neurology Authors: Shelby J. Cash, Brooklyn P. Mcgue, Tamara S. Reynolds, Erin R. Crist Tags: Case Report Source Type: research