A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis
Annals of Laboratory Medicine
;
: 170-173, 2016.
Article
in English
| WPRIM
| ID: wpr-151579
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Bone Marrow
/
Haplotypes
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Sequence Alignment
/
Amino Acid Sequence
/
Mutation, Missense
/
Asian People
Limits:
Child, preschool
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2016
Type:
Article
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