KLI

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)

Metadata Downloads
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.
Author(s)
고경남기창석김혜리김흥식박은실서진경심예지이나희이영호이재민이재희임영탁임호준정혜림최영배하정숙하정옥한정우Eu Jeen Yang
Issued Date
2021
Type
Article
Keyword
blood platelet disordershigh-throughput nucleotide sequencingthrombastheniawhole exome sequencingwhole genome sequencing
DOI
10.3390/genes12050693
URI
https://oak.ulsan.ac.kr/handle/2021.oak/8004
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_6fc2de33d0504ec28a1592a0ea0e89b5&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Genetic%20Confirmation%20and%20Identification%20of%20Novel%20Variants%20for%20Glanzmann%20Thrombasthenia%20and%20Other%20Inherited%20Platelet%20Function%20Disorders:%20A%20Study%20by%20the%20Korean%20Pediatric%20Hematology%20Oncology%20Group%20(KPHOG)&offset=0&pcAvailability=true
Publisher
GENES
Location
스위스
Language
한국어
ISSN
2073-4425
Citation Volume
12
Citation Number
5
Citation Start Page
0
Citation End Page
0
Appears in Collections:
Medicine > Medicine
Authorize & License
  • Authorize공개
Files in This Item:
  • There are no files associated with this item.

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.