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Mutations in purine nucleoside phosphorylase deficiency. 1997
M L Markert, and
B D Finkel, and
T M McLaughlin, and
T J Watson, and
H R Collard, and
C P McMahon, and
L G Andrews, and
M J Barrett, and
F E Ward
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
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.
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