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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.
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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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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