title: Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
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.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Ilse
authors.initials: I
authors.lastname: Meerschaut
authors.affiliation: Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
authors.forename: Victoria
authors.initials: V
authors.lastname: Bordon
authors.affiliation: Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
authors.forename: Catharina
authors.initials: C
authors.lastname: Dhooge
authors.affiliation: Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
authors.forename: Patricia
authors.initials: P
authors.lastname: Delbeke
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
authors.forename: Arnaud V
authors.initials: AV
authors.lastname: Vanlander
authors.affiliation: Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Amos
authors.initials: A
authors.lastname: Simon
authors.affiliation: Dr. von Hauner Children's Hospital, Ludwig Maximilians University, München, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
authors.affiliation: Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
authors.forename: Raz
authors.initials: R
authors.lastname: Somech
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Bert
authors.initials: B
authors.lastname: Callewaert
mesh_terms: D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology; D009503:Neutropenia / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011379:Prognosis; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C498421:VPS45 protein, human; D033921:Vesicular Transport Proteins
keywords: bone marrow fibrosis; genetics; hematopoietic stem cell transplantation; neutropenia