A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.
In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.
Galanello
R
R
Istituto Clinica Biologia Etá Evolutiva Universitá degli Studi di Cagliari, Italy. rgalanel@mcweb.unica.it
Loi
D
D
Sollaino
C
C
Dessì
S
S
Cao
A
A
Melis
M A
MA
D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D013789:Thalassemia / Q000201:enzymology / Q000235:genetics
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase