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Case Reports
. 2009 Jul-Aug;29(4):309-12.
doi: 10.4103/0256-4947.55320.

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Abdullah Alangari  1 , Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Ines Santisteban, Michael Hershfield
Affiliations
Case Reports

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

Abdullah Alangari et al. Ann Saudi Med. 2009 Jul-Aug.

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT. Expression of PNP (146L) cDNA in E coli indicated that the mutation greatly reduced, but did not completely eliminate PNP activity.

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Figures

Figure 1
Figure 1
Sequencing of PNP gene from case 1 revealed a novel missense mution Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT.
Figure 2
Figure 2
Histochemical in situ assay for PNP activity of recombinant wild type and P146L mutant human PNP, following expression in E coli. Lanes contained approximately equal amounts of extract protein. Lane 1, untransformed E coli SΦ3834 (control). Lane 2, E coli Sø3834 transformed with 146L (mutant) PNP. Lane 3, E coli Sø3834 transformed with 146P (wild type) PNP. The upper staining band is due to E coli PNP. The arrow indicates the position of human PNP.
See this image and copyright information in PMC

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