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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)45-48
Number of pages4
JournalHuman Genetics
Volume97
Issue number1
Publication statusPublished - Jan 1996

Fingerprint

Paroxysmal Hemoglobinuria
Glycosylphosphatidylinositols
Mutation
Genes
Terminator Codon
Exons
Blood Cells
Membrane Proteins
RNA
Polymerase Chain Reaction
DNA
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Savoia, A., Ianzano, L., Lunardi, C., De Sandre, G., Carotenuto, M., Musto, P., & Zelante, L. (1996). Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Human Genetics, 97(1), 45-48.

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. / Savoia, Anna; Ianzano, Leonarda; Lunardi, Claudio; De Sandre, Giorgio; Carotenuto, Mario; Musto, Pellegrino; Zelante, Leopoldo.

In: Human Genetics, Vol. 97, No. 1, 01.1996, p. 45-48.

Research output: Contribution to journalArticle

Savoia, A, Ianzano, L, Lunardi, C, De Sandre, G, Carotenuto, M, Musto, P & Zelante, L 1996, 'Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients', Human Genetics, vol. 97, no. 1, pp. 45-48.
Savoia A, Ianzano L, Lunardi C, De Sandre G, Carotenuto M, Musto P et al. Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Human Genetics. 1996 Jan;97(1):45-48.
Savoia, Anna ; Ianzano, Leonarda ; Lunardi, Claudio ; De Sandre, Giorgio ; Carotenuto, Mario ; Musto, Pellegrino ; Zelante, Leopoldo. / Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. In: Human Genetics. 1996 ; Vol. 97, No. 1. pp. 45-48.
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