title: Mutations in purine nucleoside phosphorylase deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Markert
authors.forename: B D
authors.initials: BD
authors.lastname: Finkel
authors.forename: T M
authors.initials: TM
authors.lastname: McLaughlin
authors.forename: T J
authors.initials: TJ
authors.lastname: Watson
authors.forename: H R
authors.initials: HR
authors.lastname: Collard
authors.forename: C P
authors.initials: CP
authors.lastname: McMahon
authors.forename: L G
authors.initials: LG
authors.lastname: Andrews
authors.forename: M J
authors.initials: MJ
authors.lastname: Barrett
authors.forename: F E
authors.initials: FE
authors.lastname: Ward
mesh_terms: 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*
chemical_list: D011683:Purine-Nucleoside Phosphorylase