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

摘要: 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 SCID phenotype, single patient. The maternal-derived allele carries C to T transition exon 2 resulting premature stop codon at amino acid 57. paternal-derived mutation G A position + 1 intron 3, causing complete skipping of 3 and reading frameshift 2-exon 4 junction. predicted polypeptide encoded by aberrantly spliced mRNA terminates prematurely after only 89 acids. Both predict severely truncated proteins enzymatic activity, yet development profound this patient greatly delayed.