SERPING1 mutations in 59 families with hereditary angioedema

Molecular Immunology

Volumn 49, Issue 1-2, 2011, Pages 18-27

  López Lera, Alberto ^a,b   Garrido, Sofía ^a,b   Roche, Olga ^a   López Trascasa, Margarita ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

C1 Inhibitor; Complement; Hereditary angioedema; Mutational spectrum; Rare diseases

Indexed keywords

C1NH PROTEIN; COMPLEMENT COMPONENT C4; GENOMIC DNA; RNA; SERINE PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ANGIONEUROTIC EDEMA; ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT;

ANGIOEDEMAS, HEREDITARY; COHORT STUDIES; COMPLEMENT C1 INACTIVATOR PROTEINS; COMPLEMENT C3; COMPLEMENT C4; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION;

EID: 82455212876     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2011.07.010     Document Type: Article

References (43)

1. Ariga T., Igarashi T., Ramesh N., Parad R., Cicardi M., Davis A.E. Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. J. Clin. Invest. 1989, 83(6):1888-1893.
2. Bautista-Llácer R., Alberola T.M., Vendrell X., Fernández E., Pérez-Alonso M. Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema. Reprod. Biomed. Online 2010, 21(5):658-662. Epub 2010 Jun 16.
3. Bebenek K., Kunkel T.A. Streisinger revisited: DNA synthesis errors mediated by substrate misalignments. Cold Spring Harb. Symp. Quant. Biol. 2000, 65:81-91.
4. Bissler J.J., Aulak K.S., Donaldson V.H., Rosen F.S., Cicardi M., Harrison R.A., Davis A.E. Molecular defects in hereditary angioneurotic edema. Proc. Assoc. Am. Physicians 1997, 109(2):164-173.
5. Blanch A., Roche O., López-Granados E., Fontán G., López-Trascasa M. Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations. Hum. Mutat. 2002, 20(5):405-406.
6. Bos I.G.A.C. C1-Inhibitor Potentiation by Glycosaminoglycans, CIP-Gegevens Koninklijke Bibliotheek 2003, The Hague, Netherlands.
7. Bowen B., Hawk J.J., Sibunka S., Hovick S., Weiler J.M. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin. Immunol. 2001, 98(2):157-163.
8. Bowen T., Cicardi M., Bork K., Zuraw B., Frank M., Ritchie B., Farkas H., Varga L., Zingale L.C., Binkley K., Wagner E., Adomaitis P., Brosz K., Burnham J., Warrington R., Kalicinsky C., Mace S., McCusker C., Schellenberg R., Celeste L., Hebert J., Valentine K., Poon M.C., Serushago B., Neurath D., Yang W., Lacuesta G., Issekutz A., Hamed A., Kamra P., Dean J., Kanani A., Stark D., Rivard G.E., Leith E., Tsai E., Waserman S., Keith P.K., Page D., Marchesin S., Longhurst H.J., Kreuz W., Rusicke E., Martinez-Saguer I., Aygören-Pürsün E., Harmat G., Füst G., Li H., Bouillet L., Caballero T., Moldovan D., Späth P.J., Smith-Foltz S., Nagy I., Nielsen E.W., Bucher C., Nordenfelt P., Xiang Z.Y. Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. Ann, Allergy Asthma Immunol. 2008, 100(1 Suppl. 2):S30-S40.
9. Bygum A., Fagerberg C.R., Ponard D., Monnier N., Lunardi J., Drouet C. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy 2011, 66(1):76-84.
10. Caliezi C., Wuillemin W.A., Zeerleder S., Redondo M., Eisele B., Hack C.E. C1-Esterase inhibitor: an anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema. Pharmacol. Rev. 2000, 52(1):91-112. (Review).
11. Carter P.E., Duponchel C., Tosi M., Fothergill J.E. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur. J. Biochem. 1991, 197(2):301-308.
12. Cugno M., Nussberger J., Cicardi M., Agostoni A. Bradykinin and the pathophysiology of angioedema. Int. Immunopharmacol. 2003, 3(3):311-317.
13. Cumming S.A., Halsall D.J., Ewan P.W., Lomas D.A. The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema. J. Med. Genet. 2003, 40(10):e114.
14. Davis A.E. Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema. Ann. Allergy Asthma Immunol. 2008, 100(1 Suppl. 2):S7-S12. Review.
15. Eldering E., Verpy E., Roem D., Meo T., Tosi M. COOH-terminal substitutions in the serpin C1 inhibitor that cause loop overinsertion and subsequent multimerization. J. Biol. Chem. 1995, 270(6):2579-2587.
16. Frank M.M. Complement disorders and hereditary angioedema. J. Allergy Clin. Immunol. 2010, 125(2 Suppl 2):S262-S271. Review.
17. Gaboriaud C., Thielens N.M., Gregory L.A., Rossi V., Fontecilla-Camps J.C., Arlaud G.J. Structure and activation of the C1 complex of complement: unraveling the puzzle. Trends Immunol. 2004, 25(7):368-373. Review.
18. Gooptu B., Lomas D.A. Polymers and inflammation: disease mechanisms of the serpinopathies. J. Exp. Med. 2008, 205(7):1529-1534. Review.
19. Gösswein T., Kocot A., Emmert G., Kreuz W., Martinez-Saguer I., Aygören-Pürsün E., Rusicke E., Bork K., Oldenburg J., Müller C.R. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenet. Genome Res. 2008, 121(3-4):181-188.
20. Grigoriadou S., Longhurst H.J. Clinical Immunology Review Series: an approach to the patient with angio-oedema. Clin. Exp. Immunol. 2009, 155:367-377.
21. Irving J.A., Pike R.N., Lesk A.M., Whisstock J.C. Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function. Genome Res. 2000, 10(12):1845-1864.
22. Isken O., Maquat L.E. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev. 2007, 21(15):1833-1856.
23. Law R.H., Zhang Q., McGowan S., Buckle A.M., Silverman G.A., Wong W., Rosado C.J., Langendorf C.G., Pike R.N., Bird P.I., Whisstock J.C. An overview of the serpin superfamily. Genome Biol. 2006, 7(5):216.
24. Kalmár L., Bors A., Farkas H., Vas S., Fandl B., Varga L., Füst G., Tordai A. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum. Mutat. 2003, 22(6):498.
25. Lomas D.A., Belorgey D., Mallya M., Miranda E., Kinghorn K.J., Sharp L.K., Phillips R.L., Page R., Robertson A.S., Crowther D.C. Molecular mousetraps and the serpinopathies. Biochem. Soc. Trans. 2005, 33(Pt 2):321-330.
26. López-Lera A., Favier B., de la Cruz R.M., Garrido S., Drouet C., López-Trascasa M. A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. J. Allergy Clin. Immunol. 2010, 126(6). 1307-10.e3.
27. Matheson N., Bathurst I., Travis J. The primary role of the P1 residue (ser359) of alpha-1-proteinase inhibitor. Biochem. Biophys. Res. Commun. 1989, 159(1):271-277.
28. Nussberger J., Cugno M., Cicardi M., Agostoni A. Local bradykinin generation in hereditary angioedema. J. Allergy Clin. Immunol. 1999, 104(6):1321-1322.
29. Pappalardo E., Cicardi M., Duponchel C., Carugati A., Choquet S., Agostoni A., Tosi M. Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. J. Allergy Clin. Immunol. 2000, 106(6):1147-1154.
30. Pappalardo E., Caccia S., Suffritti C., Tordai A., Zingale L.C., Cicardi M. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol. Immunol. 2008, 45(13):3536-3544.
31. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G. Relative quantifications of 40 nucleic acid sequences by multiplex ligation dependent probe amplification. Nucleic Acids Res. 2002, 30.
32. Roche O., Blanch A., Duponchel C., Fontán G., Tosi M., López-Trascasa M. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum. Mutat. 2005, 26(2):135-144.
33. Sen S.K., Han K., Wang J., Lee J., Wang H., Callinan P.A., Dyer M., Cordaux R., Liang P., Batzer M.A. Human genomic deletions mediated by recombination between Alu elements. Am. J. Hum. Genet. 2006, 79(1):41-53.
34. Simonovic I., Patston P.A. The native metastable fold of C1-inhibitor is stabilized by disulfide bonds. Biochim. Biophys. Acta 2000, 1481(1):97-102.
35. Skriver K., Radziejewska E., Silbermann J.A., Donaldson V.H., Bock S.C. CpG mutations in the reactive site of human C1 inhibitor. J. Biol. Chem. 1989, 264(6):3066-3071.
36. Stoppa-Lyonnet D., Duponchel C., Meo T., Laurent J., Carter P.E., Arala-Chaves M., Cohen J.H., Dewald G., Goetz J., Hauptmann G., et al. Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients. Am. J. Hum. Genet. 1991, 49(5):1055-1062.
37. Verpy E., Biasotto M., Brai M., Misiano G., Meo T., Tosi M. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am. J. Hum. Genet. 1996, 59(2):308-319.
38. Verpy E., Couture-Tosi E., Eldering E., Lopez-Trascasa M., Späth P., Meo T., Tosi M. Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. J. Clin. Invest. 1995, 95(1):350-359.
39. Verpy E., Couture-Tosi E., Tosi M. C1 inhibitor mutations which affect intracellular transport and secretion in type I hereditary angioedema. Behring Inst. Mitt. 1993, (93):120-124.
40. Whisstock J.C., Skinner R., Carrell R.W., Lesk A.M. Conformational changes in serpins: I. The native and cleaved conformations of alpha(1)-antitrypsin. J. Mol. Biol. 2000, 295(3):651-665.
41. Zahedi R., MacFarlane R.C., Wisnieski J.J., Davis A.E. C1 inhibitor: analysis of the role of amino acid residues within the reactive center loop in target protease recognition. J. Immunol. 2001, 167(3):1500-1506.
42. Zhang M.Q. Statistical features of human exons and their flanking regions. Hum. Mol. Genet. 1998, 7(5):919-932.
43. Zuraw B.L., Herschbach J. Detection of C1 inhibitor mutations in patients with hereditary angioedema. J. Allergy Clin. Immunol. 2000, 105(3):541-546.