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Article

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)

1
Department of Pediatrics, Pusan National University School of Medicine, Pusan National University Children’s Hospital, Yangsan 50612, Korea
2
Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 42601, Korea
3
Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Daegu Dongsan Hospital, Daegu 41931, Korea
4
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children’s Hospital, Seoul 05505, Korea
5
Department of Pediatrics, Korea Cancer Center Hospital, Seoul 01812, Korea
6
Department of Pediatrics, Gyeongsang National University College of Medicine, Gyeongsang National University Hospital, Jinju 52727, Korea
7
Department of Pediatrics, Cha Bundang Medical Center, Cha University, Seongnam 13496, Korea
8
Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon 16499, Korea
9
Department of Pediatrics, Daegu Fatima Hospital, Daegu 41199, Korea
10
Department of Pediatrics, Yeungnam University College of Medicine, Daegu 42415, Korea
11
Department of Pediatrics, Yonsei University College of Medicine, Yonsei University Health System, Seoul 03722, Korea
12
Department of Pediatrics, Chungbuk National University School of Medicine, Chungbuk National University Hospital, Cheongju 28644, Korea
13
Department of Pediatrics, Hanyang University Seoul Hospital, Seoul 04763, Korea
14
Deparment of Pediatrics, Sungkyunkwan University School of Medicine, Kangbuk Samsung Hospital, Seoul 03181, Korea
15
Department of Laboratory Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Daegu 42601, Korea
16
Green Cross Genome, Yongin 16924, Korea
*
Author to whom correspondence should be addressed.
List of authors in the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group provided in the acknowledgments.
Academic Editor: Lisbeth Birk Møller
Genes 2021, 12(5), 693; https://doi.org/10.3390/genes12050693
Received: 28 March 2021 / Revised: 21 April 2021 / Accepted: 2 May 2021 / Published: 6 May 2021
(This article belongs to the Special Issue Genetics of Rare Disease)
The diagnosis of inherited platelet function disorders (IPFDs) is challenging owing to the unavailability of essential testing methods, including light transmission aggregometry and flow cytometry, in several medical centers in Korea. This study, conducted by the Korean Pediatric Hematology Oncology Group from March 2017 to December 2020, aimed to identify the causative genetic variants of IPFDs in Korean patients using next-generation sequencing (NGS). Targeted exome sequencing, followed by whole-genome sequencing, was performed for diagnosing IPFDs. Of the 11 unrelated patients with suspected IPFDs enrolled in this study, 10 patients and 2 of their family members were diagnosed with Glanzmann thrombasthenia (GT). The variant c.1913+5G>T of ITGB3 was the most common, followed by c.2333A>C (p.Gln778Pro) of ITGB2B. Known variants of GT, including c.917A>C (p.His306Pro) of ITGB3 and c.2975del (p.Glu992Glyfs*), c.257T>C (p.Leu86Pro), and c.1750C>T (p.Arg584*) of ITGA2B, were identified. Four novel variants of GT, c.1451G>T (p.Gly484Val) and c.1595G>T (p.Cys532Phe) of ITGB3 and c.1184G>T (p.Gly395Val) and c.2390del (p.Gly797Valfs*29) of ITGA2B, were revealed. The remaining patient was diagnosed with platelet type bleeding disorder 18 and harbored two novel RASGRP2 variants, c.1479dup (p.Arg494Alafs*54) and c.813+1G>A. We demonstrated the successful application of NGS for the accurate and differential diagnosis of heterogeneous IPFDs. View Full-Text
Keywords: blood platelet disorders; high-throughput nucleotide sequencing; thrombasthenia; whole exome sequencing; whole genome sequencing blood platelet disorders; high-throughput nucleotide sequencing; thrombasthenia; whole exome sequencing; whole genome sequencing
MDPI and ACS Style

Yang, E.J.; Shim, Y.J.; Kim, H.S.; Lim, Y.T.; Im, H.J.; Koh, K.-N.; Kim, H.; Suh, J.K.; Park, E.S.; Lee, N.H.; Choi, Y.B.; Hah, J.O.; Lee, J.M.; Han, J.W.; Lee, J.H.; Lee, Y.-H.; Jung, H.L.; Ha, J.-S.; Ki, C.-S.; on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group. Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG). Genes 2021, 12, 693. https://doi.org/10.3390/genes12050693

AMA Style

Yang EJ, Shim YJ, Kim HS, Lim YT, Im HJ, Koh K-N, Kim H, Suh JK, Park ES, Lee NH, Choi YB, Hah JO, Lee JM, Han JW, Lee JH, Lee Y-H, Jung HL, Ha J-S, Ki C-S, on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group. Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG). Genes. 2021; 12(5):693. https://doi.org/10.3390/genes12050693

Chicago/Turabian Style

Yang, Eu J., Ye J. Shim, Heung S. Kim, Young T. Lim, Ho J. Im, Kyung-Nam Koh, Hyery Kim, Jin K. Suh, Eun S. Park, Na H. Lee, Young B. Choi, Jeong O. Hah, Jae M. Lee, Jung W. Han, Jae H. Lee, Young-Ho Lee, Hye L. Jung, Jung-Sook Ha, Chang-Seok Ki, and on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group. 2021. "Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)" Genes 12, no. 5: 693. https://doi.org/10.3390/genes12050693

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