Identification and characterization of an inherited mutation of PIG‐A in a patient with paroxysmal nocturnal haemoglobinuria

Abstract

Analysis of the X‐linked gene PIG‐A from haemopoietic cells of a female PNH patient showed a homozygous C‐55‐T substitution that caused replacement of arginine with tryptophan at codon 19. AvaI restriction analysis of PIG‐A cDNA demonstrated that the patient was homozygous for this mutation, whereas her mother was heterozygous and her father was hemizygous. Flow cytometry, however, showed normal expression of glycosyl phosphatidylinositol anchored proteins on blood cells of the patient’s mother and father. Therefore the C‐55‐T mutation is an inherited sequence variant that does not account for the PNH phenotype of this patient.