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Mutations in purine nucleoside phosphorylase deficiency

✍ Scribed by M. Louise Markert; Bruce D. Finkel; Tanya M. McLaughlin; TJ Watson; Harold R. Collard; Connette P. McMahon; Lucy G. Andrews; Michael J. Barrett; Frances E. Ward

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 136 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:2<118::aid-humu3>3.0.co;2-5

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✦ Synopsis

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, A 174P and G190V, a single codon deletion, aI129, and a point mutation in intron 3 which leads to aberrant splicing and creation of a premature stop codon in exon 4 (286 -18GÃA). 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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