title: A new glucose-6-phosphate dehydrogenase variant G6PD Sugao (826C-->T) exhibiting chronic hemolytic anemia with episodes of hemolytic crisis immediately after birth.
abstract: A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolysis with episodes of hemolytic crisis immediately after birth is reported. The propositus was a 1-month-old Japanese male infant. Molecular analysis of the G6PD gene revealed a novel missense mutation (826C-->4T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated this novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conserved residue that may play a significant role in dimer formation.
authors.affiliation: Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan. m2taki@marianna-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Taki
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: M
authors.initials: M
authors.lastname: Kawata
authors.forename: M
authors.initials: M
authors.lastname: Den
authors.forename: Y
authors.initials: Y
authors.lastname: Kurihara
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation