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Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

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Affiliated Author(s)
심예지
Alternative Author(s)
Shim, Ye Jee
Journal Title
Orphanet Journal of Rare Diseases
ISSN
1750-1172
Issued Date
2019
Keyword
Hereditary spherocytosisRBC membrane disorderMolecular diagnosis
Abstract
Background:
Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic variation associated with HS among patients clinically diagnosed with HS.

Methods:
Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzymeencoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform.

Results:
Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane proteinencoding genes. A total of 54 significant variants including 46 novel mutations were detected in six RBC membrane protein-encoding genes, with the highest number of variants found in SPTB (n = 28), and followed by ANK1 (n = 19), SLC4A1 (n =3), SPTA1 (n =2), EPB41 (n= 1), and EPB42 (n = 1). Concurrent mutations of genes encoding RBC enzymes (ALDOB, GAPDH, and GSR) were detected in three patients. UGT1A1 mutations were present in 24 patients (40.7%). Positive rate of osmotic fragility test was 86.8% among patients harboring HS-related gene mutations.

Conclusions:
This constitutes the first large-scaled genetic study of Korean patients with HS. We demonstrated that multi-gene target sequencing is sensitive and feasible that can be used as a powerful tool for diagnosing HS. Considering the discrepancies of clinical and molecular diagnoses of HS, our findings suggest that molecular genetic analysis is required for accurate diagnosis of HS.
Department
Dept. of Pediatrics (소아청소년학)
Publisher
School of Medicine (의과대학)
Citation
Hyoung Soo Choi et al. (2019). Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Orphanet Journal of Rare Diseases, 14(1). doi: 10.1186/s13023-019-1070-0
Type
Article
ISSN
1750-1172
DOI
10.1186/s13023-019-1070-0
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/42016
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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