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Clin Genet. 2001 Jun;59(6):430-7.

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.

Author information

  • 1Division of Immunology and Allergy, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive disease, which presents clinically as severe combined immunodeficiency (SCID). We report here two novel mutations in the PNP gene that result in SCID phenotype, in a single patient. The maternal-derived allele carries a C to T transition in exon 2 resulting in a premature stop codon at amino acid 57. The paternal-derived mutation is a G to A transition at position +1 in intron 3, causing a complete skipping of exon 3 and a reading frameshift at the exon 2-exon 4 junction. The predicted polypeptide encoded by the aberrantly spliced mRNA terminates prematurely after only 89 amino acids. Both mutations predict severely truncated proteins resulting in a complete deficiency of PNP enzymatic activity, yet the development of profound immunodeficiency in this patient is greatly delayed.

PMID:
11453975
[PubMed - indexed for MEDLINE]
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