Mutations in purine nucleoside phosphorylase deficiency.
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A174P and G190V, a single codon deletion, delta I129, and a point mutation in intron 3 which leads to aberrant splicing and creation of a premature stop codon in exon 4 (286-18G-->A). Of the previously reported mutations, E89K was found in one additional patient, and R234P was found in 3 unrelated patients, making R234P the most common mutation reported to date in this disease.
Markert, ML; Finkel, BD; McLaughlin, TM; Watson, TJ; Collard, HR; McMahon, CP; Andrews, LG; Barrett, MJ; Ward, FE
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