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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
Author(s) -
Meerschaut Ilse,
Bordon Victoria,
Dhooge Catharina,
Delbeke Patricia,
Vanlander Arnaud V.,
Simon Amos,
Klein Christoph,
Kooy R. Frank,
Somech Raz,
Callewaert Bert
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37367
Subject(s) - phenotype , congenital neutropenia , genotype , neutropenia , hematopoietic stem cell transplantation , genotype phenotype distinction , mutation , medicine , biology , transplantation , genetics , immunology , gene , chemotherapy
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.