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Wiley, The American Journal of Medical Genetics - Part A, 12(167), p. 3214-3218, 2015

DOI: 10.1002/ajmg.a.37367

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Severe congenital neutropenia with neurological impairment due to a homozygousVPS45p.E238K mutation: A case report suggesting a genotype-phenotype correlation

Journal article published in 2015 by Ilse Meerschaut, Victoria Bordon, Catharina Dhooge, Patricia Delbeke, Arnaud V. Vanlander, Amos Simon, Christoph Klein, R. Frank Kooy, Raz Somech, Bert Callewaert ORCID
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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.