Hereditary angioedema in Greek families caused by novel and recurrent mutations

Human Immunology

Volumn 70, Issue 11, 2009, Pages 925-929

  Speletas, Matthaios ^a   Boukas, Konstantinos ^a   Papadopoulou Alataki, Efimia ^b   Tsitsami, Elena ^a   Germenis, Anastasios E ^a  

^a UNIVERSITY OF THESSALY   (Greece)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

Dinucleotide mutation; Hereditary angioedema; SERPING1

Indexed keywords

ADENINE; COMPLEMENT COMPONENT C1S INHIBITOR; CYTOSINE; METHIONINE; PHENYLALANINE; THYMINE; TRYPTOPHAN; VALINE;

ANGIONEUROTIC EDEMA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GREECE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTAGENESIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; STOP CODON;

ADULT; AGED, 80 AND OVER; ANGIOEDEMAS, HEREDITARY; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COMPLEMENT C1 INACTIVATOR PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GREECE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 70349954772     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2009.08.010     Document Type: Article

References (23)

1. Cicardi M., Zingale L., Zanichelli A., Pappalardo E., and Cicardi B. C1 inhibitor: Molecular and clinical aspects. Semin Immunol 27 (2005) 286-298
2. Rosen F.S., and Davis III A.E. Deficiencies of C1 inhibitor. Best Pract Res Clin Gastroenterol 19 (2005) 251-261
3. Zuraw B.L. Clinical practice. Hereditary angioedema. N Engl J Med 359 (2008) 1027-1036
4. Pappalardo E., Cicardi M., Duponchel C., Carugati A., Choquet S., Agostoni A., et al. Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allerg Clin Immunol 106 (2000) 1147-1154
5. Bowen B., Hawk J.J., Sibunka S., Hovick S., and 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 98 (2001) 157-163
6. Bork K., Barnstedt S., Koch P., and Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 356 (2000) 213-217
7. Bork K., Gul D., Hardt J., and Dewald G. Hereditary angioedema with normal C1 inhibitor: Clinical symptoms and course. Am J Med 120 (2007) 987-992
8. Cichon S., Martin L., Hennies H.C., Muller F., Van Driessche K., Karpushova A., et al. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type iii. Am J Hum Genet 79 (2006) 1098-1104
9. Dewald G., and Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 343 (2006) 1286-1289
10. Bork K., Kleist R., Hardt J., and Witzke G. Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys. Blood Coagul Fibrinolysis 20 (2009) 325-332
11. Stoppa-Lyonnet D., Carter P.E., Meo T., and Tosi M. Cluster of intragenic Alu repeats predispose the human C1INH locus to deleterious rearrangements. Proc Natl Acad Sci U S A 87 (1990) 1551-1555
12. Agostoni A., Aygoren-Pursun E., Binkley K.E., Blanch A., Bork K., Bouillet L., et al. Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allerg Clin Immunol 114 (2004) S51-S131
13. Bock S.C., Skriver K., Nielsen E., Thogersen H.C., Wiman B., Donaldson V.H., et al. Human C1 inhibitor: Primary structure, cDNA cloning, and chromosomal localization. Biochemistry 25 (1986) 4292-4301
14. Papadopoulou-Alataki E., Foerster T., Antari V., Pavlitou-Tsiontsi A., and Varlamis G. Molecular diagnosis and management of hereditary angioedema in a Greek family. Int Arch Allerg Immunol 147 (2008) 166-170
15. Pappalardo E., Caccia S., Suffritti C., Tordai A., Zingale L.C., and Cicardi M. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates. Hum Immunol 45 (2008) 3536-3544
16. Carter P.E., Duponchel C., Tosi M., and Fothergill J.E. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu éléments. Eur J Biochem 197 (1991) 301-308
17. Kimura M. Molecular evolutionary clock and the neutral theory. J Mol Evol 26 (1987) 24-33
18. Roche O., Blanch A., Duponchel C., Fontan G., Tosi M., and Lopez-Trascasa M. Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mut 26 (2005) 135-144
19. Giannelli F., Green P.M., High K.A., Sommer S.S., Lillicrap D.P., Ludwig M., et al. Haemophilia B: Database of point mutations and short additions and deletions-third edition, 1992. Nucleic Acids Res 20 Suppl (1992) 2027-2063
20. Gimm O., Marsh D.J., Andrew S.D., Frilling A., Dahia P.L.M., Mulligan L.M., et al. Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 82 (1997) 3902-3904
21. Joh G.Y., Traupe H., Metze D., Nashan D., Huber M., Hohl D., et al. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol 108 (1997) 357-361
22. Lung C.C., Chan E.K.L., and Zuraw B.L. Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency. J Allerg Clin Immunol 99 (1997) 134-146
23. Drouet C., Desormeaux A., Robillard J., Ponard D., Bouillet L., Martin L., et al. Metallopeptidase activities in hereditary angioedema: Effect of androgen prophylaxis on plasma aminopeptidase P. J Allerg Clin Immunol 121 (2008) 429-433