Literature DB >> 26358756

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

Ilse Meerschaut1, Victoria Bordon2, Catharina Dhooge2, Patricia Delbeke3, Arnaud V Vanlander4, Amos Simon5, Christoph Klein6, R Frank Kooy7, Raz Somech5, Bert Callewaert1.   

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.

Entities:  

Keywords:  bone marrow fibrosis; genetics; hematopoietic stem cell transplantation; neutropenia

Mesh：

Substances：

Year:  2015        PMID： 26358756     DOI： 10.1002/ajmg.a.37367

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  7 in total

1.  Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Authors:  Pilar L Magoulas; Oleg A Shchelochkov; Matthew N Bainbridge; Shay Ben-Shachar; Svetlana Yatsenko; Lorraine Potocki; Richard A Lewis; Charles Searby; Andrea N Marcogliese; M Tarek Elghetany; Gladys Zapata; Paula P Hernández; Manasi Gadkari; Derek Einhaus; Donna M Muzny; Richard A Gibbs; Alison A Bertuch; Daryl A Scott; Silvia Corvera; Luis M Franco
Journal:  Blood       Date:  2018-05-21       Impact factor: 22.113

Review 2.  New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.

Authors:  Seth J Corey; Usua Oyarbide
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2017-12-08

Review 3.  Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine.

Authors:  Christoph Klein
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

Review 4.  How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.

Authors:  Bella Shadur; Nathalie Asherie; Peter E Newburger; Polina Stepensky
Journal:  Pediatr Blood Cancer       Date:  2018-10-07       Impact factor: 3.167

Review 5.  The Evidence for Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Neutrophil Disorders: A Comprehensive Review by the Inborn Errors Working Party Group of the EBMT.

Authors:  Shahrzad Bakhtiar; Bella Shadur; Polina Stepensky
Journal:  Front Pediatr       Date:  2019-10-24       Impact factor: 3.418

Review 6.  Lessons learned from the study of human inborn errors of innate immunity.

Authors:  Giorgia Bucciol; Leen Moens; Barbara Bosch; Xavier Bossuyt; Jean-Laurent Casanova; Anne Puel; Isabelle Meyts
Journal:  J Allergy Clin Immunol       Date:  2018-08-01       Impact factor: 10.793

7.  Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.

Authors:  Faris A Alotaibi; Abdullah I Albarkheel
Journal:  Int J Clin Pediatr Dent       Date:  2020 Sep-Oct
  7 in total

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