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

Hanan Tawadrous; Tara Maga; Josefina Sharma; Juan Kupferman; Richard J.H. Smith; Morris Schoeneman

doi:10.1007/s00467-009-1415-3

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

Hanan Tawadrous
, Tara Maga
, Josefina Sharma
, Juan Kupferman
, Richard J.H. Smith
, Morris Schoeneman

Research output: Contribution to journal › Article › peer-review

39 Scopus citations

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.

Original language	English
Pages (from-to)	947-951
Number of pages	5
Journal	Pediatric Nephrology
Volume	25
Issue number	5
DOIs	https://doi.org/10.1007/s00467-009-1415-3
State	Published - May 2010
Externally published	Yes

Keywords

Atypical hemolytic uremic syndrome
Complement
Factor B

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10.1007/s00467-009-1415-3

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@article{bf6f5593e1494958b7c4c3dbcebd61d9,

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.",

keywords = "Atypical hemolytic uremic syndrome, Complement, Factor B",

author = "Hanan Tawadrous and Tara Maga and Josefina Sharma and Juan Kupferman and Smith, \{Richard J.H.\} and Morris Schoeneman",

note = "Funding Information: This research was supported in part by a grant from the aHUS Foundation (RJHS).",

year = "2010",

month = may,

doi = "10.1007/s00467-009-1415-3",

language = "English",

volume = "25",

pages = "947--951",

journal = "Pediatric Nephrology",

issn = "0931-041X",

publisher = "Springer Science and Business Media Deutschland GmbH",

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TY - JOUR

T1 - A novel mutation in the Complement Factor B gene (CFB) and atypical hemolytic uremic syndrome

AU - Tawadrous, Hanan

AU - Maga, Tara

AU - Sharma, Josefina

AU - Kupferman, Juan

AU - Smith, Richard J.H.

AU - Schoeneman, Morris

N1 - Funding Information: This research was supported in part by a grant from the aHUS Foundation (RJHS).

PY - 2010/5

Y1 - 2010/5

N2 - 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.

AB - 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.

KW - Atypical hemolytic uremic syndrome

KW - Complement

KW - Factor B

UR - https://www.scopus.com/pages/publications/77951257162

U2 - 10.1007/s00467-009-1415-3

DO - 10.1007/s00467-009-1415-3

M3 - Article

C2 - 20108004

AN - SCOPUS:77951257162

SN - 0931-041X

VL - 25

SP - 947

EP - 951

JO - Pediatric Nephrology

JF - Pediatric Nephrology

IS - 5

ER -

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

Abstract

Keywords

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