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

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

doi:10.1002/ajmg.a.37367

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

Ilse Meerschaut, Victoria Bordon, Catharina Dhooge, Patricia Delbeke, Arnaud V. Vanlander, Amos Simon, Christoph Klein, R. Frank Kooy, Raz Somech, Bert Callewaert^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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.

Original language	English
Pages (from-to)	3214-3218
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	167
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.37367
State	Published - 1 Dec 2015

Keywords

Bone marrow fibrosis
Genetics
Hematopoietic stem cell transplantation
Neutropenia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/ajmg.a.37367

Cite this

Meerschaut, I., Bordon, V., Dhooge, C., Delbeke, P., Vanlander, A. V., Simon, A., Klein, C., Kooy, R. F., Somech, R., & Callewaert, B. (2015). Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. American Journal of Medical Genetics, Part A, 167(12), 3214-3218. https://doi.org/10.1002/ajmg.a.37367

@article{0ce082b79938455c97e490054cc67ed1,

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.",

keywords = "Bone marrow fibrosis, Genetics, Hematopoietic stem cell transplantation, Neutropenia",

author = "Ilse Meerschaut and Victoria Bordon and Catharina Dhooge and Patricia Delbeke and Vanlander, {Arnaud V.} and Amos Simon and Christoph Klein and Kooy, {R. Frank} and Raz Somech and Bert Callewaert",

note = "Publisher Copyright: {\textcopyright} 2015 Wiley Periodicals, Inc.",

year = "2015",

month = dec,

day = "1",

doi = "10.1002/ajmg.a.37367",

language = "אנגלית",

volume = "167",

pages = "3214--3218",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "12",

}

Meerschaut, I, Bordon, V, Dhooge, C, Delbeke, P, Vanlander, AV, Simon, A, Klein, C, Kooy, RF, Somech, R & Callewaert, B 2015, 'Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation', American Journal of Medical Genetics, Part A, vol. 167, no. 12, pp. 3214-3218. https://doi.org/10.1002/ajmg.a.37367

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. / Meerschaut, Ilse; Bordon, Victoria; Dhooge, Catharina et al.
In: American Journal of Medical Genetics, Part A, Vol. 167, No. 12, 01.12.2015, p. 3214-3218.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation

T2 - A case report suggesting a genotype-phenotype correlation

AU - Meerschaut, Ilse

AU - Bordon, Victoria

AU - Dhooge, Catharina

AU - Delbeke, Patricia

AU - Vanlander, Arnaud V.

AU - Simon, Amos

AU - Klein, Christoph

AU - Kooy, R. Frank

AU - Somech, Raz

AU - Callewaert, Bert

PY - 2015/12/1

Y1 - 2015/12/1

N2 - 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.

AB - 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.

KW - Bone marrow fibrosis

KW - Genetics

KW - Hematopoietic stem cell transplantation

KW - Neutropenia

UR - http://www.scopus.com/inward/record.url?scp=84959354926&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37367

DO - 10.1002/ajmg.a.37367

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 26358756

AN - SCOPUS:84959354926

SN - 1552-4825

VL - 167

SP - 3214

EP - 3218

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -

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

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this