title: A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
abstract: We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin, reference interval 9-22). We found her asymptomatic mother to be heterozygous for a novel PKLR mutation (c.1573delT) with an erythrocyte PK activity of 6.2 U/g hemoglobin. Her asymptomatic father was heterozygous for the common Northern European PKLR mutation (c.1529A) with an erythrocyte PK activity of 3.6 U/g. The neonate was a compound heterozygote with both mutations, but with no other mutations identified by sequencing a panel of 27 genes involved in severe neonatal jaundice.
authors: Department of Pediatrics, Division of Hematology/Oncology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors: Hassan M
authors: HM
authors: Yaish
authors: Roberto H
authors: RH
authors: Nussenzveig
authors: Archana M
authors: AM
authors: Agarwal
authors: Abdul H
authors: AH
authors: Siddiqui
authors: Robert D
authors: RD
authors: Christensen
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes; D007567:Jaundice, Neonatal / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D007527:Isoenzymes; D011770:Pyruvate Kinase