Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia
Lezon-Geyda K, Schulz V, Maksimova Y, Gallagher P. Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia. Blood 2018, 132: 503. DOI: 10.1182/blood-2018-99-117752.Peer-Reviewed Original ResearchMRNA transcriptsTermination codonK562 cellsMinigene assayIntron 30Precise genetic basisAcceptor sitesInsertion/deletion mutationsHereditary pyropoikilocytosisWhole-genome sequencingNMD inhibitorsAcceptor splice siteDiagnostic gene panelsGenome databaseMRNA splicingWild-type minigeneConsensus sitesAltered splicingExon 31Genetic basisTranscript productionErythroid cellsGene manipulationGenetic analysisWT backgroundPklr 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