Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

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.
Source: Annals of Saudi Medicine - Category: General Medicine Tags: ISSUE 4 Source Type: research