Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Copyright policy )Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
AbstractUntil recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger panel of genes can be analyzed and whole exome and/or whole genome sequencing can be used when no variants are found in the candidate genes. By using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease.
- Erasmus University Medical Center Netherlands
- University of Patras Greece
- Southern Medical University China (People's Republic of)
- University of Oxford United Kingdom
- University of Queensland Australia
Anemia, Hemolytic, 1303 Biochemistry, Erythrocytes, Hydrops Fetalis, Iron, 2720 Hematology, Pyruvate Kinase, Kruppel-Like Transcription Factors, 610, Heme, 1307 Cell Biology, Mice, SDG 3 - Good Health and Well-being, Congenital dyserythropoietic anemia, 616, Animals, Humans, Erythropoiesis, Exome, Terminal erythroid-differentiation, KLF1, 2403 Immunology, Increased fetal-hemoglobin, EMC MGC-02-13-02, Genetic Variation, Sequence Analysis, DNA, red blood cell disorders, Protein Structure, Tertiary, Hemoglobinopathies, Phenotype, Gene Expression Regulation, Beta-thalassemia mutations, Blood Group Antigens, Gene Deletion, Transcription factor Klf1
Anemia, Hemolytic, 1303 Biochemistry, Erythrocytes, Hydrops Fetalis, Iron, 2720 Hematology, Pyruvate Kinase, Kruppel-Like Transcription Factors, 610, Heme, 1307 Cell Biology, Mice, SDG 3 - Good Health and Well-being, Congenital dyserythropoietic anemia, 616, Animals, Humans, Erythropoiesis, Exome, Terminal erythroid-differentiation, KLF1, 2403 Immunology, Increased fetal-hemoglobin, EMC MGC-02-13-02, Genetic Variation, Sequence Analysis, DNA, red blood cell disorders, Protein Structure, Tertiary, Hemoglobinopathies, Phenotype, Gene Expression Regulation, Beta-thalassemia mutations, Blood Group Antigens, Gene Deletion, Transcription factor Klf1
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