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
M L
ML
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Finkel
B D
BD
McLaughlin
T M
TM
Watson
T J
TJ
Collard
H R
HR
McMahon
C P
CP
Andrews
L G
LG
Barrett
M J
MJ
Ward
F E
FE
D000483:Alleles; D005091:Exons; D006801:Humans; D007438:Introns; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics*
D011683:Purine-Nucleoside Phosphorylase