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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)
- Source :
- Genes, Volume 12, Issue 5, Genes, Vol 12, Iss 693, p 693 (2021)
- Publication Year :
- 2021
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2021.
-
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&gt<br />T of ITGB3 was the most common, followed by c.2333A&gt<br />C (p.Gln778Pro) of ITGB2B. Known variants of GT, including c.917A&gt<br />C (p.His306Pro) of ITGB3 and c.2975del (p.Glu992Glyfs*), c.257T&gt<br />C (p.Leu86Pro), and c.1750C&gt<br />T (p.Arg584*) of ITGA2B, were identified. Four novel variants of GT, c.1451G&gt<br />T (p.Gly484Val) and c.1595G&gt<br />T (p.Cys532Phe) of ITGB3 and c.1184G&gt<br />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&gt<br />A. We demonstrated the successful application of NGS for the accurate and differential diagnosis of heterogeneous IPFDs.
- Subjects :
- Oncology
Male
medicine.medical_specialty
Pediatric Hematology/Oncology
Integrin alpha2
QH426-470
030204 cardiovascular system & hematology
Polymorphism, Single Nucleotide
Article
whole exome sequencing
03 medical and health sciences
0302 clinical medicine
Thrombasthenia
Gene Frequency
thrombasthenia
Internal medicine
Republic of Korea
Genetics
medicine
Humans
Platelet
high-throughput nucleotide sequencing
Genetics (clinical)
Exome sequencing
blood platelet disorders
Blood Platelet Disorders
Whole genome sequencing
whole genome sequencing
business.industry
Infant, Newborn
Integrin beta3
Infant
Glanzmann thrombasthenia
Child, Preschool
Female
Differential diagnosis
business
030215 immunology
Subjects
Details
- Language :
- English
- ISSN :
- 20734425
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.doi.dedup.....585009e2cc863b17f960ca5a2f4dee9d
- Full Text :
- https://doi.org/10.3390/genes12050693