Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Am J Med Genet A
; 167A(12): 3214-8, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-26358756
ABSTRACT
VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in VPS45 (vacuolar sorting protein 45). She successfully underwent hematopoietic stem cell transplantation. Our findings delineate the phenotype and indicate a possible genotype-phenotype correlation for neurological involvement.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte Vesicular
/
Homozigoto
/
Mutação
/
Doenças do Sistema Nervoso
/
Neutropenia
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article