Novel and recurrent mutations in the C1NH gene of arab patients affected with hereditary angioedema

International Archives of Allergy and Immunology

Volumn 151, Issue 2, 2010, Pages 149-154

  Faiyaz Ul Haque, Muhammad ^a,b   Al Gazlan, Sulaiman ^a   Abalkhail, Halah A ^a   Al Abdulatif, Ahmad ^a   Toulimat, Mohamed ^a   Peltekova, Iskra ^c   Khaliq, Agha M R ^a   Al Dayel, Fouad ^a   Zaidi, Syed H E ^d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c QUEEN S UNIVERSITY   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

C1NH gene; Hereditary angioedema; Missense mutation; Nonsense mutation

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; DANAZOL;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANGIONEUROTIC EDEMA; ARAB; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ETHNICITY; FAMILY; FATTY LIVER; FEMALE; HETEROZYGOTE; HIRSUTISM; HUMAN; LETHARGY; MALE; MENSTRUAL IRREGULARITY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIDE EFFECT; WEIGHT GAIN;

EID: 70049112730     PISSN: 10182438     EISSN: None     Source Type: Journal    
DOI: 10.1159/000236005     Document Type: Article

References (18)

1. Blanch A, Roche O, Lopez-Granados E, Fontan G, Lopez-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: 405-406.
2. Blanch A, Roche O, Urrutia I, Gamboa P, Fontan G, Lopez-Trascasa M: First case of homozygous c1 inhibitor deficiency. J Allergy Clin Immunol 2006; 118: 1330-1335.
3. Davis AE 3rd, Aulak K, Parad RB, et al: C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. Nat Genet 1992; 1: 354-358.
4. Gosswein T, Kocot A, Emmert G, et al: Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenet Genome Res 2008; 121: 181-188.
5. Kalmar L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Fust G, Tordai A: Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. Hum Mutat 2003; 22: 498.
6. Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M: Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: Functional and structural correlates. Mol Immunol 2008; 45: 3536-3544.
7. Roche O, Blanch A, Duponchel C, Fontan G, Tosi M, Lopez-Trascasa M: Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum Mutat 2005; 26: 135-144.
8. Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock SC: CpG mutations in the reactive site of human C1 inhibitor. J Biol Chem 1989; 264: 3066-3071.
9. Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, Tosi M: Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allergy Clin Immunol 2000; 106: 1147-1154.
10. Siddique Z, McPhaden AR, Whaley K: Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region. Hum Hered 1992; 42: 298-301.
11. Kalmar L, Hegedus T, Farkas H, Nagy M, Tordai A: HAEdb: a novel interactive, locusspecific mutation database for the C1 inhibitor gene. Hum Mutat 2005; 25: 1-5.
12. Agostoni A, Aygoren-Pursun E, Binkley KE, et al: Hereditary and acquired angioedema: problems and progress. Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 2004; 114:S51-S131.
13. Kessler HH, Muhlbauer G, Stelzl E, Daghofer E, Santner BI, Marth E: Fully automated nucleic acid extraction: MagNA pure LC. Clin Chem 2001; 47: 1124-1126.
14. Chang YF, Imam JS, Wilkinson MF: The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 2007; 76: 51-74.
15. Bissler JJ, Aulak KS, Donaldson VH, Rosen FS, Cicardi M, Harrison RA, Davis AE 3rd: Molecular defects in hereditary angioneurotic edema. Proc Assoc Am Physicians 1997; 109: 164-173.
16. Zuraw BL, Herschbach J: Detection of C1 inhibitor mutations in patients with hereditary angioedema. J Allergy Clin Immunol 2000; 105: 541-546.
17. Freiberger T, Kolarova L, Mejstrik P, Vyskocilova M, Kuklinek P, Litzman J: Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. Hum Mutat 2002; 19: 461.
18. Cumming SA, Halsall DJ, Ewan PW, Lomas DA: 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:e114.