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
de En
| WPRIM
| ID: wpr-151579
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Base de données:
WPRIM
Sujet principal:
Pedigree
/
Moelle osseuse
/
Haplotypes
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
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Alignement de séquences
/
Séquence d'acides aminés
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Mutation faux-sens
/
Asiatiques
Limites:
Child, preschool
/
Humans
/
Male
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
Annals of Laboratory Medicine
Année:
2016
Type de document:
Article