title: Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.
abstract: Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.
authors.affiliation: School of Clinical Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 4LP, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Richards
authors.forename: M R
authors.initials: MR
authors.lastname: Buddles
authors.forename: R L
authors.initials: RL
authors.lastname: Donne
authors.forename: B S
authors.initials: BS
authors.lastname: Kaplan
authors.forename: E
authors.initials: E
authors.lastname: Kirk
authors.forename: M C
authors.initials: MC
authors.lastname: Venning
authors.forename: C L
authors.initials: CL
authors.lastname: Tielemans
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
authors.forename: T H
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001665:Binding Sites / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017386:Sequence Homology, Amino Acid
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H