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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
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Choi, Hyoung Soo | - |
dc.contributor.author | Choi, Qute | - |
dc.contributor.author | Kim, Jung-Ah | - |
dc.contributor.author | Im, Kyong Ok | - |
dc.contributor.author | Park, Si Nae | - |
dc.contributor.author | Park, Yoomi | - |
dc.contributor.author | Shin, Hee Young | - |
dc.contributor.author | Kang, Hyoung Jin | - |
dc.contributor.author | Kook, Hoon | - |
dc.contributor.author | Kim, Seon Young | - |
dc.contributor.author | Kim, Soo-Jeong | - |
dc.contributor.author | Kim, Inho | - |
dc.contributor.author | Kim, Ji Yoon | - |
dc.contributor.author | Kim, Hawk | - |
dc.contributor.author | Park, Kyung Duki | - |
dc.contributor.author | Park, Kyung Bae | - |
dc.contributor.author | Park, Meerim | - |
dc.contributor.author | Park, Sang Kyu | - |
dc.contributor.author | Park, Eun Sil | - |
dc.contributor.author | Park, Jeong-A | - |
dc.contributor.author | Park, Jun Eun | - |
dc.contributor.author | Park, Ji Kyoung | - |
dc.contributor.author | Baek, Hee Jo | - |
dc.contributor.author | Seo, Jeong Ho | - |
dc.contributor.author | Shim, Ye Jee | - |
dc.contributor.author | Ahn, Hyo Seop | - |
dc.contributor.author | Yoo, Keon Hee | - |
dc.contributor.author | Yoon, Hoi Soo | - |
dc.contributor.author | Won, Young-Woong | - |
dc.contributor.author | Lee, Kun Soo | - |
dc.contributor.author | Lee, Kwang Chul | - |
dc.contributor.author | Lee, Mee Jeong | - |
dc.contributor.author | Lee, Sun Ah | - |
dc.contributor.author | Lee, Jun Ah | - |
dc.contributor.author | Lee, Jae Min | - |
dc.contributor.author | Lee, Jae Hee | - |
dc.contributor.author | Lee, Ji Won | - |
dc.contributor.author | Lim, Young Tak | - |
dc.contributor.author | Jung, Hyun Joo | - |
dc.contributor.author | Chueh, Hee Won | - |
dc.contributor.author | Choi, Eun Jin | - |
dc.contributor.author | Jung, Hye Lim | - |
dc.contributor.author | Kim, Ju Han | - |
dc.contributor.author | Lee, Dong Soon | - |
dc.date.accessioned | 2019-06-26T06:20:49Z | - |
dc.date.available | 2019-06-26T15:21:47Z | - |
dc.date.issued | 2019-05-23 | - |
dc.identifier.citation | Orphanet Journal of Rare Diseases. 14(1):114 | ko_KR |
dc.identifier.issn | 1750-1172 | - |
dc.identifier.uri | https://hdl.handle.net/10371/156024 | - |
dc.description.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 enzyme-encoding 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 protein-encoding 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. | ko_KR |
dc.description.sponsorship | Support was provided by: the National Research Foundation of Korea (NRF) grant funded by the Korea government(MSIT) (NRF-2017R1A2A1A17069780) http://www.nrf.re.kr/. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Hereditary spherocytosis | ko_KR |
dc.subject | RBC membrane disorder | ko_KR |
dc.subject | Molecular diagnosis | ko_KR |
dc.title | Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 최형수 | - |
dc.contributor.AlternativeAuthor | 김정아 | - |
dc.contributor.AlternativeAuthor | 임경옥 | - |
dc.contributor.AlternativeAuthor | 박시내 | - |
dc.contributor.AlternativeAuthor | 박유미 | - |
dc.contributor.AlternativeAuthor | 신희영 | - |
dc.contributor.AlternativeAuthor | 강형진 | - |
dc.contributor.AlternativeAuthor | 국훈 | - |
dc.contributor.AlternativeAuthor | 김선영 | - |
dc.contributor.AlternativeAuthor | 김수정 | - |
dc.contributor.AlternativeAuthor | 김인호 | - |
dc.contributor.AlternativeAuthor | 김지윤 | - |
dc.contributor.AlternativeAuthor | 김학 | - |
dc.contributor.AlternativeAuthor | 박경덕 | - |
dc.contributor.AlternativeAuthor | 박경배 | - |
dc.contributor.AlternativeAuthor | 박미림 | - |
dc.contributor.AlternativeAuthor | 박상규 | - |
dc.contributor.AlternativeAuthor | 박은실 | - |
dc.contributor.AlternativeAuthor | 박정아 | - |
dc.contributor.AlternativeAuthor | 박준은 | - |
dc.contributor.AlternativeAuthor | 박지경 | - |
dc.contributor.AlternativeAuthor | 백희조 | - |
dc.contributor.AlternativeAuthor | 서정호 | - |
dc.contributor.AlternativeAuthor | 심예지 | - |
dc.contributor.AlternativeAuthor | 안효섭 | - |
dc.contributor.AlternativeAuthor | 유건희 | - |
dc.contributor.AlternativeAuthor | 윤회수 | - |
dc.contributor.AlternativeAuthor | 원용웅 | - |
dc.contributor.AlternativeAuthor | 이근수 | - |
dc.contributor.AlternativeAuthor | 이광철 | - |
dc.contributor.AlternativeAuthor | 이미정 | - |
dc.contributor.AlternativeAuthor | 이선아 | - |
dc.contributor.AlternativeAuthor | 이준아 | - |
dc.contributor.AlternativeAuthor | 이재민 | - |
dc.contributor.AlternativeAuthor | 이재희 | - |
dc.contributor.AlternativeAuthor | 이지원 | - |
dc.contributor.AlternativeAuthor | 임영탁 | - |
dc.contributor.AlternativeAuthor | 정현주 | - |
dc.contributor.AlternativeAuthor | 최희원 | - |
dc.contributor.AlternativeAuthor | 최은진 | - |
dc.contributor.AlternativeAuthor | 정혜림 | - |
dc.contributor.AlternativeAuthor | 김주한 | - |
dc.contributor.AlternativeAuthor | 이동순 | - |
dc.identifier.doi | 10.1186/s13023-019-1070-0 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2019-05-26T05:06:09Z | - |
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