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
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Moelle osseuse
/
Haplotypes
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Alignement de séquences
/
Séquence d'acides aminés
/
Mutation faux-sens
/
Asiatiques
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Annals of Laboratory Medicine
Année:
2016
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS