Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations
Lezon-Geyda K, Rose M, McNaull M, Knoll C, Yaish H, Pastore Y, Fermi E, Glader B, Bianchi P, Grace R, Gallagher P. Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations. Blood 2018, 132: 3607. DOI: 10.1182/blood-2018-99-117805.Peer-Reviewed Original ResearchWhole-genome sequencingPyruvate kinase-deficient patientsSplice siteDonor splice sitePyruvate kinasePK-deficient patientsGenome sequencingPKLR geneSequence analysisWhole-exome sequencingIntron mutationsDominant negative phenotypeExon 7Exon 10Detailed sequence analysisPyruvate kinase geneDisease-associated variantsRare genetic variantsNormal mRNA processingSplice acceptor siteRegion mutationsIntron retentionErythroid promoterGenome databasePremature chain termination