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Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

ABSTRACT: Until 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.

SUBMITTER: Perkins A

PROVIDER: S-EPMC4832505 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Perkins Andrew A Xu Xiangmin X Higgs Douglas R DR Patrinos George P GP Arnaud Lionel L Bieker James J JJ Philipsen Sjaak S

Blood 20160222 15

Until 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 anemia ...[more]

PMID: 26903544

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