Mutations in purine nucleoside phosphorylase defic...[Hum Mutat. 1997]

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1: Hum Mutat. 1997;9(2):118-21. Links

Mutations in purine nucleoside phosphorylase deficiency.

Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE.

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.

PMID: 9067751 [PubMed - indexed for MEDLINE]

Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.
Clin Genet. 2001 Jun; 59(6):430-7.

[Clin Genet. 2001]
Novel missense mutation in the purine nucleoside phosphorylase gene in a Japanese patient with purine nucleoside phosphorylase deficiency.
Pediatr Int. 2002 Jun; 44(3):333-4.

[Pediatr Int. 2002]
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.
Hum Genet. 1998 Jul; 103(1):81-5.

[Hum Genet. 1998]
ReviewPurine nucleoside phosphorylase deficiency.
Immunodefic Rev. 1991; 3(1):45-81.

[Immunodefic Rev. 1991]
Review[PNP (purine nucleoside phosphorylase) deficiency]
Nippon Rinsho. 2003 Jan; 61 Suppl 1:372-6.

[Nippon Rinsho. 2003]
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