A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.
10.3343/alm.2016.36.2.170
- Author:
Ardak K SULTANOVA
1
;
Seong Koo KIM
;
Jae Wook LEE
;
Pil Sang JANG
;
Nack Gyun CHUNG
;
Bin CHO
;
Joonhong PARK
;
Yonggoo KIM
;
Myungshin KIM
Author Information
1. Department of Pediatrics, National Research Center for Maternal and Child Health, Astana, Kazakhstan.
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Syntaxin 11;
Mutation;
Hemophagocytic lymphohistiocytosis;
Korean
- MeSH:
Alleles;
Amino Acid Sequence;
Asian Continental Ancestry Group/*genetics;
Base Sequence;
Bone Marrow/metabolism;
Child, Preschool;
Comparative Genomic Hybridization;
DNA Mutational Analysis;
Genotype;
Haplotypes;
Homozygote;
Humans;
Lymphohistiocytosis, Hemophagocytic/*genetics/pathology;
Male;
Molecular Sequence Data;
Mutation, Missense;
Pedigree;
Qa-SNARE Proteins/*genetics;
Republic of Korea;
Sequence Alignment
- From:Annals of Laboratory Medicine
2016;36(2):170-173
- CountryRepublic of Korea
- Language:English
-
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.
