Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (<Emphasis Type="Italic">ELANE</Emphasis>) mutation |
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Authors: | Esther van de Vosse Els M Verhard Anton J T Tool Adriëtte W de Visser Taco W Kuijpers Pieter S Hiemstra Jaap T van Dissel |
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Affiliation: | (1) Department of Infectious Diseases, C5-P, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands;(2) Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;(3) Department of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands |
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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. |
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