TY - JOUR
T1 - Krüppeling erythropoiesis
T2 - An unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
AU - KLF1 Consensus Workgroup
AU - Perkins, Andrew
AU - Xu, Xiangmin
AU - Higgs, Douglas R.
AU - Patrinos, George P.
AU - Arnaud, Lionel
AU - Bieker, James J.
AU - Philipsen, Sjaak
N1 - Funding Information:
This work was supported by the Landsteiner Foundation for Blood Transfusion Research (LSBR 1040), The Netherlands Organization for Scientific Research (NWO/ZonMw TOP 40-00812-98-12128), and the EU Seventh Framework Program Specific Cooperation Research Project THALAMOSS (306201) (S.P.); EU FP7 HEALTH projects (200754 and 305444) (G.P.P.); Medical Research Council UK and the National Institute for Health Research Oxford Biomedical Research Centre Programme (D.R.H.); National Natural Science Foundation of China-Guangdong Joint Fund (No. U1201222) and National Key Technology Research and Development Program China (No. 2012BAI09B01) (X.X.); National Health Medical Research Council APP1082439 Australia (A.P.); National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases grants R01-DK046865 and R01-DK102260, and New York Stem Cell Foundation grant CO26435 (J.J.B.).
Publisher Copyright:
© 2016 by The American Society of Hematology.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84993661821&partnerID=8YFLogxK
U2 - 10.1182/blood-2016-01-694331
DO - 10.1182/blood-2016-01-694331
M3 - Review article
C2 - 26903544
AN - SCOPUS:84993661821
SN - 0006-4971
VL - 127
SP - 1856
EP - 1862
JO - Blood
JF - Blood
IS - 15
ER -