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: Ardak K Sultanova, Seong-koo Kim, Jae Wook Lee, Pil-Sang Jang, Nack-Gyun Chung, Bin Cho, Joonhong Park, Yonggoo Kim, Myungshin Kim
• Journal: Annals of laboratory medicine (Ann Lab Med) Vol. 36 Issue 2 Pg. 170-3 (Mar 2016) ISSN: 2234-3814 [Electronic] Korea (South)
• PMID: 26709266 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Qa-SNARE Proteins
• STX11 protein, human

Topics

• Alleles
• Amino Acid Sequence
• Asian People (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