A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice

作者：Yaish Hassan M; Nussenzveig Roberto H; Agarwal Archana M; Siddiqui Abdul H; Christensen Robert D^*

来源：Neonatology, 2014, 106(2): 140-142.

DOI：10.1159/000363219

• Jaundice
• Neonate
• Hemolysis
• Pyruvate kinase
• Bilirubin

We report a neonate with early and severe hemolytic jaundice and low erythrocyte pyruvate kinase enzymatic activity (%26lt;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.

• 出版日期2014