Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Plasma protease C1 inhibitor

The SERPING1 gene encodes an inihibitor of complement components C1r and C1s at the start of the complement cascade. Mutations cause autosomal dominant angioneurotic edema and and partial complementC4 deficiency.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Complement component C4A deficiency
C4A
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
SERPING1

References:

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.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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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14.

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

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15.

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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16.

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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17.

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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18.

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

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19.

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

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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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

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26.

Cicardi M et. al. (1996) Hereditary angioedema.

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27.

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

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28.

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

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29.

None (1961) Chronic familial giant urticaria.

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30.

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

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31.

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

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32.

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

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Update: Sept. 26, 2018