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

Authors

  • Göran Carlsson MD, PhD,

    1. Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
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  • Göran Elinder MD, PhD,

    1. Karolinska Institutet, Department of Clinical Science and Education, Södersjukhuset, Stockholm, Sweden
    2. Sachs' Children's Hospital, Stockholm, Sweden
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  • Helena Malmgren PhD,

    1. Clinical Genetics Unit, Karolinska University Hospital, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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  • Alicja Trebinska MSc,

    1. Department of Molecular Biology, Cancer Center Institute, Warsaw, Poland
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  • Ewa Grzybowska PhD,

    1. Department of Molecular Biology, Cancer Center Institute, Warsaw, Poland
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  • Niklas Dahl MD, PhD,

    1. Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
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  • Magnus Nordenskjöld MD, PhD,

    1. Clinical Genetics Unit, Karolinska University Hospital, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
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  • Bengt Fadeel MD, PhD

    Corresponding author
    1. 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.
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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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