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- Title
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
- Authors
Dalal, I; Grunebaum, E; Cohen, A; Roifman, C M
- 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.
- Publication
Clinical genetics, 2001, Vol 59, Issue 6, p430
- ISSN
0009-9163
- Publication type
Journal Article
- DOI
10.1034/j.1399-0004.2001.590608.x