Severe α-1 antitrypsin deficiency caused by Q0 Ourém allele: Clinical features, haplotype characterization and history

Clinical Genetics

Volumn 81, Issue 5, 2012, Pages 462-469

  Vaz Rodrigues, L ^a,b   Costa, F ^a   Marques, P ^b   Mendonca C ^a   Rocha, J ^b   Seixas, S ^b  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

1 antitrypsin deficiency; Haplotype characterization; L353fsX376 mutation; Mutation age estimate; Pulmonary emphysema; SERPINA1 null alleles

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEIN; SERPINA1 PROTEIN; UNCLASSIFIED DRUG;

AGED; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LUNG FUNCTION; MALE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THORAX RADIOGRAPHY;

ADULT; AGED; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; CONSANGUINITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE ORDER; HAPLOTYPES; HUMANS; LIVER; LUNG; MALE; MIDDLE AGED; PEDIGREE; PORTUGAL; YOUNG ADULT;

EID: 84859602481     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01670.x     Document Type: Article

References (24)

1. Stolk J, Luisetti M. Genetics and epidemiology. In: Bala R, Köhnlein TA, eds. Alpha-1-antitrypsin deficiency: Pathophysiology, diagnosis and treatment. Stuttgart, Germany: Georg Thieme Verlag, 2009: 1-11.
2. * alleles of a1-antitrypsin deficiency in European countries. Eur Respir J 2006: 27: 77-84.
3. American Thoracic Society. European Respiratory Society American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003: 168: 818-900.
4. Fregonese L, Stolk J, Frants RR, Veldhuisen B. Alpha-1 antitrypsin null mutations and severity of emphysema. Respir Med 2008: 102: 876-884.
5. Ferrarotti I, Baccheschi J, Zorzetto M et al. Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. J Med Genet 2005: 42: 282-287.
6. Seixas S, Mendonça C, Costa F, Rocha J. α1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→A transition in position +1 of intron IC affecting normal mRNA splicing. Clin Genet 2002: 62: 175-180.
7. Curiel D, Brantly M, Curiel E, Stier L, Crystal RG. α1-Antitrypsin deficiency caused by the α1-antitrypsin nullmattawa gene. An insertion mutation rendering the α1-antitrypsin gene incapable of producing α1-antitrypsin. J Clin Invest 1989: 83: 1144-1152.
8. Quanjer PH, Tammeling GJ, Cotes JE, Pedersen OF, Peslin R, Yernault JC. Lung volumes and forced ventilatory flows. Report working party standardization of lung function tests, Official statement of the European Respiratory Society. Eur Respir J 1993: 16: 5-40.
9. Cotes JE, Chinn DJ, Quanjer PH, Roca J, Yernault JC. Standardization of the measurement of transfer factor (diffusing capacity). Official statement of the European Respiratory Society. Eur Respir J 1993: 16: 41-52.
10. Rocha J, Pinto D, Santos MT et al. Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal. Hum Genet 1997: 99: 194-198.
11. Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J. Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism. Hum Genet 2001: 108: 20-30.
12. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A. A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. Eur J Hum Genet 2006: 14: 932-940.
13. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003: 73: 1162-1169.
14. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001: 68: 978-989.
15. McPeek MS, Strahs A. Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping. Am J Hum Genet 1999: 65: 858-875.
16. Weber JL, Wong C. Mutation of short tandem repeats. Hum Mol Genet 1993: 2: 1123-1128.
17. Dahl M, Hersh CP, Ly NP, Berkey CS, Silverman EK, Nordestgaard BG. The protease inhibitor PI*S allele and COPD: a meta-analysis. Eur Respir J 2005: 26: 67-76.
18. Dahl M, Nordestgaard BG, Lange P, Vestbo J, Tybjaerg-Hansen A. Molecular diagnosis of intermediate and severe alpha(1)-antitrypsin deficiency: MZ individuals with chronic obstructive pulmonary disease may have lower lung function than MM individuals. Clin Chem 2001: 47: 56-62.
19. Hersh CP, Dahl M, Ly NP, Berkey CS, Nordestgaard BG, Silverman EK. Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis. Thorax 2004: 59: 843-849.
20. Novoradovsky A, Brantly ML, Waclawiw MA et al. Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha1-antitrypsin deficiency. Am J Respir Cell Mol Biol 1999: 20: 441-447.
21. Demeo DL, Campbell EJ, Barker AF et al. IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency. Am J Respir Cell Mol Biol 2008: 38: 114-120.
22. Wood AM, Simmonds MJ, Bayley DL, Newby PR, Gough SC, Stockley RA. The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respir Res 2008: 11: 9-52.
23. Perlmutter DH. Autophagic disposal of the aggregation-prone protein that causes liver inflammation and carcinogenesis in alpha-1-antitrypsin deficiency. Cell Death Differ 2009: 16: 39-45.
24. Elyseu JNG. "Esboço histórico do concelho de Villa Nova de Ourém". In: Ourém, Três contributos para a sua história, Ourém, Ed. Ourém, Portugal: Câmara Municipal de Ourém, Estudos e documentos, 1994; p. 74.