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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)

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Author(s)
Eu Jeen YangYe Jee ShimHeung Sik KimYoung Tak LimHo Joon ImKyung-Nam KohHyery KimJin Kyung SuhEun Sil ParkNa Hee LeeYoung Bae ChoiJeong Ok HahJae Min LeeJung Woo HanJae Hee LeeYoung-Ho LeeHye Lim JungJung-Sook HaChang-Seok Ki
Keimyung Author(s)
Shim, Ye JeeKim, Heung SikHa, Jung Sook
Department
Dept. of Pediatrics (소아청소년학)
Dept. of Laboratory Medicine (진단검사의학)
Journal Title
Genes (Basel)
Issued Date
2021
Volume
12
Issue
5
Keyword
blood platelet disordershigh-throughput nucleotide sequencingthrombastheniawhole exome sequencingwhole genome sequencing
Abstract
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.
Keimyung Author(s)(Kor)
심예지
김흥식
하정숙
Publisher
School of Medicine (의과대학)
Citation
Eu Jeen Yang et al. (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 (Basel), 12(5), 693. doi: 10.3390/genes12050693
Type
Article
ISSN
2073-4425
Source
https://www.mdpi.com/2073-4425/12/5/693
DOI
10.3390/genes12050693
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/43796
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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