Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Plasmaprotease C1-Inhibitor

Das SERPING1-Gen kodiert einen Inhibitor der Komplementfaktoren C1r und C1s am beginn der Komplementkaskade. Mutationen führen zu autosomal dominantem angioneurotischem Ödem Typ 1 und 2 und zu partiellem Komplement C4-Mangel.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Komplement C4A-Mangel
C4A
Hereditäres Angioödem 1
SERPING1
Hereditäres Angioödem 2
SERPING1

Referenzen:

1.

Stoppa-Lyonnet D et al. (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

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2.

Levy NJ et al. (1990) Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

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3.

Theriault A et al. (1990) Regional assignment of the human C1-inhibitor gene to 11q11-q13.1.

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4.

Ariga T et al. (1989) Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon.

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5.

Stoppa-Lyonnet D et al. (1987) Altered C1 inhibitor genes in type I hereditary angioedema.

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6.

Cicardi M et al. (1987) Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.

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7.

None (1973) The genetics of hereditary angioedema: a hypothesis.

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8.

Cicardi M et al. (1996) Hereditary angioedema.

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9.

Verpy E et al. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

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10.

None (1961) Chronic familial giant urticaria.

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11.

Guarino S et al. (2006) Gonadal mosaicism in hereditary angioedema.

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12.

Zahedi R et al. (1995) Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

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13.

Siddique Z et al. (1992) A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.

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14.

Davis AE et al. (1992) C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

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15.

Stoppa-Lyonnet D et al. (1991) Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients.

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16.

McPhaden AR et al. (1991) Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency.

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17.

Siddique Z et al. (1991) An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.

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18.

Frangi D et al. (1991) Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema.

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19.

Ariga T et al. (1990) Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene.

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20.

Aulak KS et al. (1990) Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

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21.

Skriver K et al. (1989) CpG mutations in the reactive site of human C1 inhibitor.

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22.

Cicardi M et al. (1987) Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema.

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23.

Aulak KS et al. (1988) Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.

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24.

Carter PE et al. (1988) Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins.

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25.

Davis AE et al. (1986) Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.

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26.

Bock SC et al. (1986) Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

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27.

Cox DW et al. (1985) Direct assignment of orosomucoid to human chromosome 9 and alpha 2HS-glycoprotein to chromosome 3 using human fetal liver x rat hepatoma hybrids.

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28.

Zahedi K et al. (1993) Structure and regulation of the C1 inhibitor gene.

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29.

Siddique Z et al. (1993) C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema.

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30.

Lener M et al. (1998) The C1 inhibitor encoding gene (C1nh) maps to mouse Chromosome 2

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31.

Kalmár L et al. (2005) HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.

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32.

Roche O et al. (2005) Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

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33.

NCBI article

NCBI 710 [^]
34.

OMIM.ORG article

Omim 606860 [^]
35.

Orphanet article

Orphanet ID 118618 [^]
36.

Wikipedia Artikel

Wikipedia DE (C1-Esterase-Inhibitor) [^]
Update: 9. Mai 2019