Severe congenital neutropenia with neurological impairment due to a homozygous  VPS45  p.E238K mutation: A case report suggesting a genotype–phenotype correlation | Zendy

Meerschaut Ilse | Zendy; Bordon Victoria | Zendy; Dhooge Catharina | Zendy; Delbeke Patricia | Zendy; Vanlander Arnaud V. | Zendy; Simon Amos | Zendy; Klein Christoph | Zendy; Kooy R. Frank | Zendy; Somech Raz | Zendy; Callewaert Bert | Zendy

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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.

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