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Mutations within the Piga gene in patients with paroxysmal nocturnal
hemoglobinuria
RE Ware, WF Rosse and TA Howard
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic
disorder with multiple and varied clinical manifestations. The biochemical
defect in PNH resides in the incomplete enzymatic assembly of
glycosylphosphatidylinositol (GPI) anchors used for surface protein
attachment. In all patients tested thus far, the defect is at the level of
N-acetylglucosamine attachment to phosphatidylinositol (complementation
class A defect). A human cDNA, Piga, that repairs cell lines with the class
A defect has been recently cloned, making Piga a candidate gene for PNH. In
the current study, using highly purified GPI- deficient granulocytes, we
have performed Northern blot and reverse transcriptase polymerase chain
reaction (RT-PCR) analysis of Piga in four patients with PNH. In each case,
we have identified a mutation in the Piga coding sequence: three frameshift
mutations were found, and a single nucleotide substitution (missense)
mutation was identified. Our results provide convincing evidence that
alterations in the Piga gene are responsible for PNH.
Volume 83,
Issue 9,
pp. 2418-2422,
05/01/1994
Copyright © 1994 by The American Society of Hematology
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