Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing
Min-Seung Park
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorBoram Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorHyun-Young Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorChul Won Jung
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorCorresponding Author
Jun Ho Jang
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence:
Jun Ho Jang ([email protected])
Hee-Jin Kim ([email protected])
Search for more papers by this authorCorresponding Author
Hee-Jin Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence:
Jun Ho Jang ([email protected])
Hee-Jin Kim ([email protected])
Search for more papers by this authorMin-Seung Park
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorBoram Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorHyun-Young Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorChul Won Jung
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Search for more papers by this authorCorresponding Author
Jun Ho Jang
Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence:
Jun Ho Jang ([email protected])
Hee-Jin Kim ([email protected])
Search for more papers by this authorCorresponding Author
Hee-Jin Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Correspondence:
Jun Ho Jang ([email protected])
Hee-Jin Kim ([email protected])
Search for more papers by this authorFunding: The authors received no specific funding for this work.
Open Research
Data Availability Statement
Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
Supporting Information
| Filename | Description |
|---|---|
| ijlh14458-sup-0001-Supinfo.docxWord 2007 document , 130.5 KB |
Table S1. Target genes for congenital erythrocytosis (N = 29). Table S2. Characteristics of patients with NGS workup for erythrocytosis. Figure S1. NGS result (visualized by Integrative Genomics Viewer [IGV] software) and chromatogram from Sanger sequencing confirming the EGLN1 Leu279Thrfs*43 variant of E11 patient. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
References
- 1 D. Vočanec, T. Prijatelj, N. Debeljak, and T. Kunej, “Genetic Variants of Erythropoietin (EPO) and EPO Receptor Genes in Familial Erythrocytosis,” International Journal of Laboratory Hematology 41 (2019): 162–167.
- 2 V. R. Gordeuk, N. S. Key, and J. T. Prchal, “Re-Evaluation of Hematocrit as a Determinant of Thrombotic Risk in Erythrocytosis,” Haematologica 104 (2019): 653–658.
- 3 C. Bento, “Genetic Basis of Congenital Erythrocytosis,” International Journal of Laboratory Hematology 40, no. 1 (2018): 62–67.
- 4 S. Richards, N. Aziz, S. Bale, et al., “Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology,” Genetics in Medicine 17 (2015): 405–424.
- 5 N. Sarper, E. Zengin, and S. A. Gelen, “Clinical Characteristics of a Turkish Family With Congenital Erythrocytosis due to an EPOR Mutation: Is Routine Phlebotomy Indicated in Children and Adolescents?,” Turk Pediatri Ars 55 (2020): 312–315.
- 6 T. H. Oo, “Secondary Erythrocytosis due to Hemoglobin San Diego,” Proceedings (Baylor University Medical Center) 34 (2020): 159–160.
- 7 J. H. Jang, J. Y. Seo, J. Jang, et al., “Hereditary Gene Mutations in Korean Patients With Isolated Erythrocytosis,” Annals of Hematology 93 (2014): 931–935.
- 8 Y. J. Choi, H. Kim, W. K. Ahn, et al., “Diagnostic Yield of Targeted Next-Generation Sequencing for Pediatric Hereditary Hemolytic Anemia,” BMC Medical Genomics 16 (2023): 215.
- 9 J. Barradas, C. D. Rodrigues, G. Ferreira, et al., “Congenital Erythrocytosis - Discover of a New Mutation in the EGLN1 Gene,” Clinical Case Reports 6 (2018): 1109–1111.
- 10 F. Gramley, J. Lorenzen, B. Jedamzik, et al., “Atrial Fibrillation Is Associated With Cardiac Hypoxia,” Cardiovascular Pathology 19 (2010): 102–111.
- 11 G. Biagetti, M. Catherwood, N. Robson, et al., “ HFE Mutations in Idiopathic Erythrocytosis,” British Journal of Haematology 181, no. 2 (2018): 270–272, https://doi.org/10.1111/bjh.14555.
- 12 M. Lenglet, F. Robriquet, K. Schwarz, et al., “Identification of a New VHL Exon and Complex Splicing Alterations in Familial Erythrocytosis or von Hippel-Lindau Disease,” Blood 132 (2018): 469–483.
