Brief Report

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

  1. Göran Carlsson MD, PhD1,
  2. Göran Elinder MD, PhD2,3,
  3. Helena Malmgren PhD4,
  4. Alicja Trebinska MSc5,
  5. Ewa Grzybowska PhD5,
  6. Niklas Dahl MD, PhD6,
  7. Magnus Nordenskjöld MD, PhD4,
  8. Bengt Fadeel MD, PhD7,*

Article first published online: 4 JUN 2009

DOI: 10.1002/pbc.22131

Issue

Pediatric Blood & Cancer

Pediatric Blood & Cancer

Volume 53, Issue 6, pages 1143–1146, 1 December 2009

Additional Information

How to Cite

Carlsson, G., Elinder, G., Malmgren, H., Trebinska, A., Grzybowska, E., Dahl, N., Nordenskjöld, M. and Fadeel, B. (2009), Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatric Blood & Cancer, 53: 1143–1146. doi: 10.1002/pbc.22131

Author Information

  1. 1

    Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden

  2. 2

    Karolinska Institutet, Department of Clinical Science and Education, Södersjukhuset, Stockholm, Sweden

  3. 3

    Sachs' Children's Hospital, Stockholm, Sweden

  4. 4

    Clinical Genetics Unit, Karolinska University Hospital, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

  5. 5

    Department of Molecular Biology, Cancer Center Institute, Warsaw, Poland

  6. 6

    Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden

  7. 7

    Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden

*Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden.

Publication History

  1. Issue published online: 9 SEP 2009
  2. Article first published online: 4 JUN 2009
  3. Manuscript Accepted: 4 MAY 2009
  4. Manuscript Received: 6 MAR 2009

Funded by

  • Swedish Children's Cancer Foundation
  • Swedish Cancer Foundation
  • Swedish Research Council
  • Stockholm County Council (ALF Project)

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Keywords:

  • compound heterozygous mutation;
  • G-CSF;
  • HAX1;
  • severe congenital neutropenia

Abstract

Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame-shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities. Pediatr Blood Cancer 2009;53:1143–1146. © 2009 Wiley-Liss, Inc.

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