Journal article
A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome
Pediatric nephrology (Berlin, West), Vol.25(5), pp.947-951
05/2010
DOI: 10.1007/s00467-009-1415-3
PMID: 20108004
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.
Details
- Title: Subtitle
- A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome
- Creators
- Hanan Tawadrous - Division of Pediatric Nephrology SUNY Downstate Medical Center 450 Clarkson Avenue Brooklyn NY 11203 USATara Maga - Interdepartmental Genetics PhD Program, Molecular Otolaryngology and Renal Research Laboratories University of Iowa 200 Hawkins Drive Iowa City IA 52242 USAJosefina Sharma - Division of Pediatric Nephrology SUNY Downstate Medical Center 450 Clarkson Avenue Brooklyn NY 11203 USAJuan Kupferman - Division of Pediatric Nephrology Maimonides Medical Center 49 Street and Fort Hamilton Parkway Brooklyn NY 11245 USARichard Smith - Interdepartmental Genetics PhD Program, Molecular Otolaryngology and Renal Research Laboratories University of Iowa 200 Hawkins Drive Iowa City IA 52242 USAMorris Schoeneman - Division of Pediatric Nephrology SUNY Downstate Medical Center 450 Clarkson Avenue Brooklyn NY 11203 USA
- Resource Type
- Journal article
- Publication Details
- Pediatric nephrology (Berlin, West), Vol.25(5), pp.947-951
- DOI
- 10.1007/s00467-009-1415-3
- PMID
- 20108004
- NLM abbreviation
- Pediatr Nephrol
- ISSN
- 0931-041X
- eISSN
- 1432-198X
- Publisher
- Springer-Verlag; Berlin/Heidelberg
- Language
- English
- Date published
- 05/2010
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006335002771
Metrics
30 Record Views