Open AccessPurine nucleoside phosphorylase deficiency in two unrelated Saudi patients
Author(s) -
Abdullah Alangari,
Abdullah Al-Harbi,
Abdulaziz Al-Ghonaium,
Inés Santisteban,
Michael S. Hershfield
Publication year - 2009
Publication title -
annals of saudi medicine/annals of saudi medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.373
H-Index - 44
eISSN - 0975-4466
pISSN - 0256-4947
DOI - 10.4103/0256-4947.55320
Subject(s) - medicine , purine nucleoside phosphorylase , purine , nucleoside , genetics , biochemistry , enzyme , chemistry , biology
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.