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Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2

Authors
 J.Y. Seo  ;  K.-O. Lee  ;  K.-H. Yoo  ;  K.-W. Sung  ;  H.H. Koo  ;  S.-H. Kim  ;  H.J. Kang  ;  K.-D. Park  ;  H.Y. Shin  ;  H.-J. Baek  ;  H. Kook  ;  C.J. Lyu  ;  J.-S. Song  ;  M.J. Lee  ;  J.-Y. Kim  ;  Y.-T. Lim  ;  K.-N. Koh  ;  H.J. Im  ;  J.J. Seo  ;  H.-J. Kim 
Citation
 Clinical Genetics, Vol.89(2) : 222-227, 2016 
Journal Title
 Clinical Genetics 
ISSN
 0009-9163 
Issue Date
2016
MeSH
Adolescent ; Amino Acid Sequence ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic/epidemiology* ; Lymphohistiocytosis, Hemophagocytic/genetics* ; Male ; Molecular Sequence Data ; Munc18 Proteins/chemistry ; Munc18 Proteins/genetics* ; Mutation/genetics* ; Prevalence ; Protein Structure, Tertiary ; RNA/genetics ; Republic of Korea
Keywords
FHL5 ; Korea ; STXBP2 mutation ; familial hemophagocytic lymphohistiocytosis
Abstract
Familial hemophagocytic lymphohistiocytosis (F-HLH or FHL) is a potentially fatal immune dysregulation syndrome with a heterogeneous genetic background. Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution. In this study, we investigated the prevalence of FHL5 in Korea. About 50 Korean pediatric patients with HLH who lacked pathogenic mutations in PRF1, UNC13D, or in STX11 from the previous series of 72 patients with HLH were analyzed for STXBP2 mutations by conventional sequencing analyses. As a result, we found one patient with two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious. c.577A>C in exon 7 resulted in incomplete splicing mutation with exon 7 skipping concurrent with exon 7-retained transcript with p.Lys193Gln substitution. The frequency of FHL5 was ~1% (1/72) in Korean pediatric patients with HLH. This is the first study on FHL5 in Korea, and the data from a nationwide patient cohort provide another piece of genetic profiles of FHL.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/cge.12682/abstract
DOI
10.1111/cge.12682
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
유철주(Lyu, Chuhl Joo) ORCID logo https://orcid.org/0000-0001-7124-7818
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/152494
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