Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

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Citation

van de Vosse E, Verhard EM, Tool AJ, de Visser AW, Kuijpers TW, Hiemstra PS, van Dissel JT

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

Ann Hematol. 2011 Feb;90(2):151-8. doi: 10.1007/s00277-010-1056-4. Epub 2010 Aug 28.

PubMed ID
20803142 [ View in PubMed
]
Abstract

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant congenital neutropenias. Using a small-scale linkage analysis with markers around the ELANE, CSF3R, CSF3 and GFI1 genes, we were able to determine that the disease segregated with markers around the ELANE gene. We identified a novel mutation in the ELANE gene in all of the affected family members that was not present in any of the healthy family members. The mutation leads to an A28S missense mutation in the mature protein. None of these patients developed leukaemia. This is the first truly multigenerational family with mutations in ELANE as unambiguous cause of severe congenital neutropenia SCN.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Neutrophil elastaseP08246Details