A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia

Blood. 2020 Jun 25;135(26):2427-2431. doi: 10.1182/blood.2019003178.

Authors

Michael Svaton¹, Karolina Skvarova Kramarzova¹, Veronika Kanderova¹, Andrea Mancikova², Petr Smisek³, Pavel Jesina⁴, Jakub Krijt⁴, Blanka Stiburkova^{4

5}, Robert Dobrovolny⁴, Jitka Sokolova⁴, Violeta Bakardjieva-Mihaylova¹, Elena Vodickova⁶, Marketa Rackova¹, Jan Stuchly¹, Tomas Kalina¹, Jan Stary³, Jan Trka¹, Eva Fronkova¹, Viktor Kozich⁴

Affiliations

¹ Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
² Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic.
³ Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁴ Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
⁵ Institute of Rheumatology, Prague, Czech Republic; and.
⁶ Department of Clinical Hematology, University Hospital Motol, Prague, Czech Republic.

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Anemia, Megaloblastic / drug therapy
Anemia, Megaloblastic / genetics*
CRISPR-Cas Systems
Cells, Cultured
Clone Cells
Exome Sequencing
Folic Acid / therapeutic use*
Frameshift Mutation
Gene Knockout Techniques
Homozygote
Humans
Hyperhomocysteinemia / drug therapy
Hyperhomocysteinemia / genetics*
K562 Cells
Male
Recurrence
Sequence Deletion
Sodium-Hydrogen Exchanger 1 / deficiency*
Sodium-Hydrogen Exchanger 1 / genetics
Vitamin B 12 / therapeutic use

Substances

SLC9A1 protein, human
Sodium-Hydrogen Exchanger 1
Folic Acid
Vitamin B 12