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A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome

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Abstract

We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement—complement factor H (CFH), membrane cofactor protein or complement factor I (CFI)—or activators of complement—complement factor B (CFB) or C3. The mutation in this patient was identified in exon 12 of CFB and changes a lysine at amino acid position 533 to an arginine (c.1598A>G p.Lys533Arg). The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7.

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Acknowledgments

This research was supported in part by a grant from the aHUS Foundation (RJHS).

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Authors and Affiliations

  1. Division of Pediatric Nephrology, SUNY Downstate Medical Center, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA

    Hanan Tawadrous, Josefina Sharma & Morris Schoeneman

  2. Interdepartmental Genetics PhD Program, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA

    Tara Maga & Richard J. H. Smith

  3. Division of Pediatric Nephrology, Maimonides Medical Center, 49 Street and Fort Hamilton Parkway, Brooklyn, NY, 11245, USA

    Juan Kupferman

Authors
  1. Hanan Tawadrous
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  2. Tara Maga
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  3. Josefina Sharma
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  6. Morris Schoeneman
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Correspondence to Hanan Tawadrous.

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Tawadrous, H., Maga, T., Sharma, J. et al. A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome. Pediatr Nephrol 25, 947–951 (2010). https://doi.org/10.1007/s00467-009-1415-3

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  • DOI: https://doi.org/10.1007/s00467-009-1415-3

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