title: A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.
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.
authors.affiliation: Division of Pediatric Nephrology, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA. gorgyraafat@msn.com
authors.forename: Hanan
authors.initials: H
authors.lastname: Tawadrous
authors.forename: Tara
authors.initials: T
authors.lastname: Maga
authors.forename: Josefina
authors.initials: J
authors.lastname: Sharma
authors.forename: Juan
authors.initials: J
authors.lastname: Kupferman
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Morris
authors.initials: M
authors.lastname: Schoeneman
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D011415:Complement Factor B / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: D011415:Complement Factor B