Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

L Schejbel; I M Schmidt; Eva Maria Kirchhoff; C B Andersen; H V Marquart; P Zipfel; P Garred

doi:10.1038/gene.2010.63

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

L Schejbel, I M Schmidt, Eva Maria Kirchhoff, C B Andersen, H V Marquart, P Zipfel, P Garred

27 Citations (Scopus)

Abstract

Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (

Original language	English
Journal	Genes and Immunity
Volume	12
Issue number	2
Pages (from-to)	90-9
Number of pages	10
ISSN	1466-4879
DOIs	https://doi.org/10.1038/gene.2010.63
Publication status	Published - 2011

Keywords

Alleles
Antigens, CD46
Blood Proteins
Chromosomes, Human, Pair 1
Complement C3b Inactivator Proteins
Complement Factor H
Complement Pathway, Alternative
Female
Gene Expression Regulation
Genetic Variation
Glomerulonephritis
Heterozygote
Homozygote
Humans
Infant
Mutation, Missense
RNA, Messenger
Sequence Analysis, DNA
Uniparental Disomy

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10.1038/gene.2010.63

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title = "Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation",

abstract = "Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (",

keywords = "Alleles, Antigens, CD46, Blood Proteins, Chromosomes, Human, Pair 1, Complement C3b Inactivator Proteins, Complement Factor H, Complement Pathway, Alternative, Female, Gene Expression Regulation, Genetic Variation, Glomerulonephritis, Heterozygote, Homozygote, Humans, Infant, Mutation, Missense, RNA, Messenger, Sequence Analysis, DNA, Uniparental Disomy",

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year = "2011",

doi = "10.1038/gene.2010.63",

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T1 - Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

AU - Schejbel, L

AU - Schmidt, I M

AU - Kirchhoff, Eva Maria

AU - Andersen, C B

AU - Marquart, H V

AU - Zipfel, P

AU - Garred, P

PY - 2011

Y1 - 2011

N2 - Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (

AB - Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (

KW - Alleles

KW - Antigens, CD46

KW - Blood Proteins

KW - Chromosomes, Human, Pair 1

KW - Complement C3b Inactivator Proteins

KW - Complement Factor H

KW - Complement Pathway, Alternative

KW - Female

KW - Gene Expression Regulation

KW - Genetic Variation

KW - Glomerulonephritis

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Infant

KW - Mutation, Missense

KW - RNA, Messenger

KW - Sequence Analysis, DNA

KW - Uniparental Disomy

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U2 - 10.1038/gene.2010.63

DO - 10.1038/gene.2010.63

M3 - Journal article

C2 - 21270828

SN - 1466-4879

VL - 12

SP - 90

EP - 99

JO - Genes and Immunity

JF - Genes and Immunity

IS - 2

ER -

Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

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Keywords

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