Human Genetics

, Volume 97, Issue 1, pp 45–48

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients

  • Anna Savoia
  • Leonarda Ianzano
  • Claudio Lunardi
  • Giorgio De Sandre
  • Mario Carotenuto
  • Pellegrino Musto
  • Leopoldo Zelante
Original Investigation

DOI: 10.1007/BF00218831

Cite this article as:
Savoia, A., Ianzano, L., Lunardi, C. et al. Hum Genet (1996) 97: 45. doi:10.1007/BF00218831

Abstract

Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by the absence of glycosyl phosphatidylinositol (GPI)-anchored surface proteins resulting from a defect in one step of GPI-anchor biosynthesis. Recent analysis has shown that mutations at the PIG-A (phosphatidylinositoglycan-class A) gene are responsible for GPI-anchor deficiency in all PNH patients. In the current study, we describe three new mutations of the PIG-A gene in Italian patients with PNH. The analysis has been performed by RNA/single-strand conformation polymorphism using genomic DNA purified from nucleated peripheral blood cells. An abnormal pattern of migration of polymerase chain reaction amplified fragments containing exons 2 and 5 was observed. Sequencing analysis led to the identification of three mutations: a transversion C-to-A creating a stop codon (Y98X), an A insertion at position 460 (460insA), and a C deletion (1114delC). All the mutations cause a premature termination of the translation of the PIG-A protein.

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Anna Savoia
    • 1
  • Leonarda Ianzano
    • 1
  • Claudio Lunardi
    • 2
  • Giorgio De Sandre
    • 2
  • Mario Carotenuto
    • 3
  • Pellegrino Musto
    • 3
  • Leopoldo Zelante
    • 1
  1. 1.Servizio di Genetica Medica, I.R.C.C.S. Ospedale “Casa Sollievo della Sofferenza”San Giovanni RotondoItaly
  2. 2.Istituto di Clinica MedicaUniversità degli Studi di VeronaVeronaItaly
  3. 3.Divisione di EmatologiaI.R.C.C.S. Ospedale “Casa Sollievo della Sofferenza”San Giovanni RotondoItaly