A Novel Syntaxin 11 Gene (STX11) Mutation c.650T > C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis

作者：Sultanova Ardak K; Kim Seong koo; Lee Jae Wook; Jang Pil Sang; Chung Nack Gyun; Cho Bin; Park Joonhong; Kim Yonggoo; Kim Myungshin^*

来源：Annals of Laboratory Medicine, 2016, 36(2): 170-173.

DOI：10.3343/alm.2016.36.2.170

• Syntaxin 11
• Mutation
• Hemophagocytic lymphohistiocytosis
• Korean

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.

• 出版日期2016-3