Digenic mutations in severe congenital neutropenia

Manuela Germeshausen, Cornelia Zeidler, Manfred Stuhrmann, Marina Lanciotti, Matthias Ballmaier, Karl Welte

Research output: Contribution to journalArticle

Abstract

Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on the disease phenotype. We describe congenital neutropenia patients with mutations in two candidate genes each, including 6 novel mutations. Two of them had a heterozygous ELANE mutation combined with a homozygous mutation in G6PCS or HAX1, respectively. The other 2 patients combined homozygous or compound heterozygous mutations in G6PC3 or HAX1 with a heterozygous mutation in the respective other gene. Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients.

Original languageEnglish
Pages (from-to)1207-1210
Number of pages4
JournalHaematologica
Volume95
Issue number7
DOIs
Publication statusPublished - 2010

Fingerprint

Mutation
Myelopoiesis
Genes
Neutropenia, Severe Congenital, Autosomal Recessive 3
Neutropenia
Epigenomics
Phenotype

Keywords

  • Congenital neutropenia
  • ELANE
  • HAX1
  • Myelopoiesis

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

Cite this

Germeshausen, M., Zeidler, C., Stuhrmann, M., Lanciotti, M., Ballmaier, M., & Welte, K. (2010). Digenic mutations in severe congenital neutropenia. Haematologica, 95(7), 1207-1210. https://doi.org/10.3324/haematol.2009.017665

Digenic mutations in severe congenital neutropenia. / Germeshausen, Manuela; Zeidler, Cornelia; Stuhrmann, Manfred; Lanciotti, Marina; Ballmaier, Matthias; Welte, Karl.

In: Haematologica, Vol. 95, No. 7, 2010, p. 1207-1210.

Research output: Contribution to journalArticle

Germeshausen, M, Zeidler, C, Stuhrmann, M, Lanciotti, M, Ballmaier, M & Welte, K 2010, 'Digenic mutations in severe congenital neutropenia', Haematologica, vol. 95, no. 7, pp. 1207-1210. https://doi.org/10.3324/haematol.2009.017665
Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Digenic mutations in severe congenital neutropenia. Haematologica. 2010;95(7):1207-1210. https://doi.org/10.3324/haematol.2009.017665
Germeshausen, Manuela ; Zeidler, Cornelia ; Stuhrmann, Manfred ; Lanciotti, Marina ; Ballmaier, Matthias ; Welte, Karl. / Digenic mutations in severe congenital neutropenia. In: Haematologica. 2010 ; Vol. 95, No. 7. pp. 1207-1210.
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