title: A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.
abstract: 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.
authors.affiliation: Department of Pediatrics, National Research Center for Maternal and Child Health, Astana, Kazakhstan.
authors.forename: Ardak K
authors.initials: AK
authors.lastname: Sultanova
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
authors.forename: Seong-koo
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
authors.forename: Jae Wook
authors.initials: JW
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
authors.forename: Pil-Sang
authors.initials: PS
authors.lastname: Jang
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
authors.forename: Nack-Gyun
authors.initials: NG
authors.lastname: Chung
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Seoul, Korea.
authors.forename: Bin
authors.initials: B
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.|Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
authors.forename: Joonhong
authors.initials: J
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.|Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
authors.forename: Yonggoo
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.|Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea. microkim@catholic.ac.kr.
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001853:Bone Marrow / Q000378:metabolism; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005838:Genotype; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D050765:Qa-SNARE Proteins / Q000235:genetics*; D056910:Republic of Korea; D016415:Sequence Alignment
chemical_list: D050765:Qa-SNARE Proteins; C541732:STX11 protein, human
keywords: Hemophagocytic lymphohistiocytosis; Korean; Mutation; Syntaxin 11