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

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posted on 24.06.2014, 00:00 by Yaish H.M., Nussenzveig R.H., Agarwal A.M., Siddiqui A.H., Christensen R.D.
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.