Novel STXBP2 Mutation Causing Familial Hemophagocytic Lymphohistiocytosis.
Indian Pediatr
;
2012 June; 49(6): 488-490
Artigo
em Inglês
| IMSEAR
| ID: sea-169373
ABSTRACT
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder. Diagnosis is established in presence of genetic mutation or positive family history in one of the siblings. Common genetic mutations associated with FHL are mutations in gene PRF-1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4). Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5. Here we describe the first reported Indian patient with homozygous mutation in STX BP2 gene (c1697 G>A resulting in amino acid change p.G566D) causing FHL 5.
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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2012
Tipo de documento:
Artigo
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