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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 170 - 173 (4page)
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We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenomegaly, and HLH in the bone marrow. Under the impression of HLH, genetic study revealed a novel homozygous missense mutation of STX11: c.650T>C, p.Leu217Pro. Although no large deletion or allele drop was identified, genotype analysis demonstrated that the homozygous c.650T>C may have resulted from the duplication of a maternal (unimaternal) chromosomal region and concurrent loss of the other paternal allele, likely caused by meiotic errors such as two crossover events. A cumulative study of such novel mutations and their effects on specific protein interactions may deepen the understanding of how abnormal STX1 expression results in deficient cytotoxic function.
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참고문헌 (11)
참고문헌 신청
zur Stadt U / 2005 / Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11 / Hum Mol Genet 14:827~834
zur Stadt U / 2006 / Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A / Hum Mutat 27:62~68
Henter JI / 2007 / HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis / Pediatr Blood Cancer 48:124~131
Horne A / 2008 / Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis / Br J Haematol 143:75~83
Sepulveda FE / 2013 / Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11 / Blood 121:595~603
zur Stadt U / 2006 / Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A / Hum Mutat 27:62~68
Henter JI / 2007 / HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis / Pediatr Blood Cancer 48:124~131
Horne A / 2008 / Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis / Br J Haematol 143:75~83
Sepulveda FE / 2013 / Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11 / Blood 121:595~603
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