MUTATIONS IN PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY

Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficienc y. The molecular defects have been published for 4 different alleles i n 3 patients. We report four new mutations including two amino acid su bstitutions, A174P and G190V, a single codon deletion, Delta I129, and a point mutation in intron 3 which leads to aberrant splicing and cre ation of a premature stop codon in exon 4 (286-18G-->A). Of the previo usly 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. (C) 1997 Wiley-Liss, Inc.