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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut, Ilse; Bordon, Victoria; Dhooge, Catharina; Delbeke, Patricia; Vanlander, Arnaud V; Simon, Amos; Klein, Christoph; Kooy, R Frank; Somech, Raz; Callewaert, Bert.
Afiliação
  • Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Bordon V; Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
  • Dhooge C; Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
  • Delbeke P; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
  • Simon A; Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Klein C; Dr. von Hauner Children's Hospital, Ludwig Maximilians University, München, Germany.
  • Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Somech R; Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
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.
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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
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

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