Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum / 소아과
Korean Journal of Pediatrics
;
: 91-95, 2014.
Article
Dans Anglais
| WPRIM
| ID: wpr-128041
ABSTRACT
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pancytopénie
/
Parents
/
Chromosomes humains de la paire 15
/
Hypopigmentation
/
Fratrie
/
Diagnostic
/
Érythème noueux
/
Lymphohistiocytose hémophagocytaire
/
Fièvre
/
Maladies du système nerveux
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2014
Type:
Article
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