The genotypic and phenotypic spectrum of PIGA deficiency.

ABSTRACT:

Background

Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Until recently, only somatic PIGA mutations had been reported in patients with paroxysmal nocturnal hemoglobinuria (PNH), while germline mutations had not been observed, and were suspected to result in lethality. However, in just two years, whole exome sequencing (WES) analyses have identified germline PIGA mutations in male patients with XLIDD (X-linked intellectual developmental disorder) with a wide spectrum of clinical presentations.

Methods and results

Here, we report on a ne

SUBMITTER: Tarailo-Graovac M 

PROVIDER: S-EPMC4348372 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature