Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype–phenotype correlation. (11th September 2015)

• Record Type: Journal Article
• Authors: Meerschaut, Ilse; Bordon, Victoria; Dhooge, Catharina; Delbeke, Patricia; Vanlander, Arnaud V.; Simon, Amos; Klein, Christoph; Kooy, R. Frank; Somech, Raz; Callewaert, Bert
• Is Part Of: American journal of medical genetics. Volume 167:Number 12(2015:Dec.)
• Page Start: 3214
• Page End: 3218
• Publication Date: 2015-09-11
• Subjects: neutropenia -- bone marrow fibrosis -- hematopoietic stem cell transplantation -- genetics; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37367
• Languages: English
• ISSNs: 1552-4825

Abstract

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. © 2015 Wiley Periodicals, Inc.