PNH from mutations of another PIG gene.
In this issue of Blood, Krawitz et al report on a patient with paroxysmal nocturnal hemoglobinuria (PNH) who does not have a mutation of PIG-A, but in whom instead both alleles of PIG-T (another gene involved in glucosylphosphatidylinositol [GPI] biosynthesis) have inactivating mutations, one in the germ line and one somatic.
Istituto Toscano Tumori, Italy.
Lucio
L
Luzzatto
D000217:Acyltransferases / Q000235:genetics*; D000818:Animals; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*
D000217:Acyltransferases; C081007:COOH-terminal signal transamidase